Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Copper-transporting ATPase 2

The ATP7B gene encodes a cation binding ATPase which is resposible for copper transport out of cells. Mutation cause autosomal copper storage disease, Wilson.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Wilson disease
ATP7B

References:

1.

None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.

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2.

None (1979) Abstracts of meeting presentations.

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3.

Tedesco TA et. al. (1975) The genetic defect in galactosemia.

[^]
4.

Kaufman F et. al. (1979) Ovarian failure in galactosaemia.

[^]
5.

Weinberg AG et. al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.

[^]
6.

Litchfield WJ et. al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

[^]
7.

Fisch RO et. al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia.

[^]
8.

Mohandas T et. al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

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9.

Westerveld A et. al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

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10.

Lindblad B et. al. (1977) On the enzymic defects in hereditary tyrosinemia.

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11.

Mohandas T et. al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

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12.

Mohandas T et. al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

[^]
13.

Levy HL et. al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

[^]
14.

Ibarra B et. al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

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15.

Tedesco TA et. al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

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16.

Benson PF et. al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

[^]
17.

Wharton CH et. al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

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18.

Bruns GA et. al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

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19.

Meera Khan P et. al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

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20.

Sun NC et. al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

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21.

Scherz R et. al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

[^]
22.

Hammersen G et. al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.

[^]
23.

Holme E et. al. (1992) Neonatal screen for hereditary tyrosinaemia type I.

[^]
24.

Lindstedt S et. al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

[^]
25.

Phaneuf D et. al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

[^]
26.

Sokal EM et. al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.

[^]
27.

Gitzelmann R et. al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

[^]
28.

Kvittingen EA et. al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.

[^]
29.

Reichardt JK et. al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

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30.

Waggoner DD et. al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.

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31.

Reichardt JK et. al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

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32.

Phaneuf D et. al. (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

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33.

Reichardt JK et. al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

[^]
34.

Mitchell G et. al. (1990) Neurologic crises in hereditary tyrosinemia.

[^]
35.

Flach JE et. al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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36.

De Braekeleer M et. al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

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37.

Tanguay RM et. al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

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38.

Russo P et. al. (1990) Visceral pathology of hereditary tyrosinemia type I.

[^]
39.

Laberge C et. al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.

[^]
40.

Paradis K et. al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience.

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41.

Brivet M et. al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.

[^]
42.

Dehner LP et. al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.

[^]
43.

van Spronsen FJ et. al. (1989) Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.

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44.

Tuchman M et. al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.

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45.

Brivet M et. al. (1989) Effect of lactation in a mother with galactosemia.

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46.

Reichardt JK et. al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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47.

Holme E et. al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.

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48.

Pettit BR et. al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia.

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49.

Kvittingen EA et. al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.

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50.

Kvittingen EA et. al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

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51.

Kvittingen EA et. al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia.

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52.

Harley JD et. al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

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53.

Tedesco TA et. al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

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54.

Whelan DT et. al. (1974) Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia.

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55.

Gaull GE et. al. (1968) Significance of hypermethionaemia in acute tyrosinosis.

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56.

None (1967) The enzymatic deficiency in tyrosinemia.

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57.

Gaull GE et. al. (1970) Biochemical observations on so-called hereditary tyrosinemia.

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58.

Sun NC et. al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

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59.

Hill HZ et. al. (1973) Detection of inborn errors of metabolism: galactosemia.

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60.

Bergren WG et. al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

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61.

Shih VE et. al. (1971) Galactosemia screening of newborns in Massachusetts.

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62.

Tedesco TA et. al. (1971) Galactosemia: evidence for a structural gene mutation.

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63.

Kelly S et. al. (1972) A Duarte variant with clinical signs.

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64.

Haschemian G et. al. (1972) [A family with galactosemia and "Duarte variant"].

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65.

Nadler HL et. al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

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66.

None (1967) Clinical variants of galactosemia.

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67.

Kang ES et. al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism.

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68.

Gitzelmann R et. al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

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69.

Sparkes RS et. al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

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70.

None (1969) Hereditary tyrosinemia in a French Canadian isolate.

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71.

Cuatrecasas P et. al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

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72.

Halvorsen S et. al. (1966) Tyrosinosis. A study of 6 cases.

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73.

Scriver CR et. al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.

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74.

Vaccaro AM et. al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

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75.

Shih LY et. al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

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76.

Hostetter MK et. al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.

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77.

Eriksen B et. al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

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78.

Lang A et. al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

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79.

Sparkes RS et. al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

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80.

Mulcahy MT et. al. (1980) Where is the gene for GALT?

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81.

Sparkes RS et. al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

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82.

Eydoux P et. al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

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83.

Dagna Bricarelli F et. al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

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84.

Kelley RI et. al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

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85.

Xu YK et. al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

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86.

Andersen MW et. al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

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87.

Andersen MW et. al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

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88.

Gartner JC et. al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients.

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89.

Robinson AC et. al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

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90.

Kvittingen EA et. al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.

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91.

Garcia-Cruz D et. al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

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92.

Urbanowski JC et. al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

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93.

Gagné R et. al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.

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94.

Kvittingen EA et. al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.

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95.

Malpuech G et. al. (1981) [Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].

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96.

Reed V et. al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.

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97.

Grompe M et. al. (1995) Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.

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98.

Ashino J et. al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

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99.

Hahn SH et. al. (1995) Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

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100.

Laine J et. al. (1995) The nephropathy of type I tyrosinemia after liver transplantation.

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101.

Thomas GR et. al. (1995) The Wilson disease gene: spectrum of mutations and their consequences.

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102.

Houwen RH et. al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation.

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103.

Thomas GR et. al. (1995) Wilson disease in Iceland: a clinical and genetic study.

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104.

St-Louis M et. al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.

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105.

Thomas GR et. al. (1995) Haplotypes and mutations in Wilson disease.

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106.

Dijkstra M et. al. (1995) Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes.

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107.

Petrukhin K et. al. (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

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108.

Lin HC et. al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

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109.

Elsas LJ et. al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

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110.

Demers SI et. al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

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111.

Kvittingen EA et. al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I.

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112.

Rootwelt H et. al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

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113.

Grompe M et. al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

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114.

Sasaki N et. al. (1994) The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene.

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115.

St-Louis M et. al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

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116.

Elsas LJ et. al. (1994) A common mutation associated with the Duarte galactosemia allele.

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117.

Grompe M et. al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

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118.

Bull PC et. al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

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119.

Tanzi RE et. al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

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120.

Grompe M et. al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

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121.

Labelle Y et. al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

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122.

Schweitzer S et. al. (1993) Long-term outcome in 134 patients with galactosaemia.

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123.

Kvittingen EA et. al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

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124.

Reichardt JK et. al. (1993) Molecular characterization of the H319Q galactosemia mutation.

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125.

Figus A et. al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

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126.

Lai K et. al. (1996) A prevalent mutation for galactosemia among black Americans.

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127.

None (1996) Round two for liver gene therapy.

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128.

Overturf K et. al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

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129.

Elsevier JP et. al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

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130.

Timmers C et. al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

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131.

St-Louis M et. al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

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132.

Rootwelt H et. al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.

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133.

Ninfali P et. al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

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134.

Podskarbi T et. al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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135.

Elsevier JP et. al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

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136.

Levy HL et. al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

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137.

Langley SD et. al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

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138.

Overturf K et. al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.

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139.

St-Louis M et. al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

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140.

Greber-Platzer S et. al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

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141.

Endo F et. al. (1997) Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.

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142.

Yang XL et. al. (1997) Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.

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143.

Shah AB et. al. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

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144.

Terada K et. al. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA.

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145.

Kim EK et. al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

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146.

Magrangeas F et. al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

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147.

Loudianos G et. al. (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

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148.

Kubo S et. al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.

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149.

Poudrier J et. al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

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150.

Payne AS et. al. (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

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151.

Holme E et. al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

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152.

Prieto-Alamo MJ et. al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

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153.

Duc HH et. al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

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154.

Tyfield L et. al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

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155.

Kozák L et. al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

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156.

Murphy M et. al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

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157.

de Jongh S et. al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

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158.

Loudianos G et. al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

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159.

Ruiz M et. al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

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160.

Kusuda Y et. al. (2000) Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

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161.

Okada T et. al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

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162.

None (2000) Cellular copper transport and metabolism.

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163.

Forbes JR et. al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

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164.

Wilson DC et. al. (2000) Severe hepatic Wilson's disease in preschool-aged children.

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165.

García-Villarreal L et. al. (2000) High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.

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166.

La Fontaine S et. al. (2001) Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.

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167.

Kim SZ et. al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

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168.

Aponte JL et. al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

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169.

Loudianos G et. al. (2000) Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

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170.

Elsas LJ et. al. () The molecular biology of galactosemia.

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171.

Elsas LJ et. al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

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172.

Wu ZY et. al. (2001) Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

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173.

Trbusek M et. al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

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174.

Suzuki M et. al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

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175.

Jorquera R et. al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.

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176.

Firneisz G et. al. (2002) Common mutations of ATP7B in Wilson disease patients from Hungary.

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177.

Arranz JA et. al. (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

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178.

Loudianos G et. al. (2002) Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

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179.

Takeshita Y et. al. (2002) Two families with Wilson disease in which siblings showed different phenotypes.

[^]
180.

None () Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

[^]
181.

Webb AL et. al. (2003) Verbal dyspraxia and galactosemia.

[^]
182.

DAWSON SP et. al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

[^]
183.

WALKER FA et. al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

[^]
184.

None (1963) TYROSINOSIS.

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185.

FRITZELL S et. al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM.

[^]
186.

HALVORSEN S et. al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.

[^]
187.

BEUTLER E et. al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

[^]
188.

GENTZ J et. al. (1965) TYROSINEMIA.

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189.

PERRY TL et. al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION.

[^]
190.

Cullen LM et. al. (2003) Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.

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191.

Gu YH et. al. (2003) Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

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192.

Panagiotakaki E et. al. (2004) Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

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193.

Pendlebury ST et. al. (2004) Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.

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194.

Bliksrud YT et. al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

[^]
195.

Dedoussis GV et. al. (2005) Wilson disease: high prevalence in a mountainous area of Crete.

[^]
196.

Margarit E et. al. (2005) Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

[^]
197.

Gupta A et. al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

[^]
198.

Todorov T et. al. (2005) Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

[^]
199.

Segal S et. al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.

[^]
200.

Gromadzka G et. al. (2005) Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

[^]
201.

Lim CM et. al. (2006) Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.

[^]
202.

None (2006) Classical galactosaemia revisited.

[^]
203.

Park S et. al. (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

[^]
204.

Barada K et. al. (2007) Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.

[^]
205.

Feillet F et. al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

[^]
206.

Carney AE et. al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

[^]
207.

Park HD et. al. (2009) Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

[^]
208.

Luoma LM et. al. (2010) Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

[^]
209.

Gourdon P et. al. (2011) Crystal structure of a copper-transporting PIB-type ATPase.

[^]
210.

Wang LH et. al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

[^]
211.

Wuestefeld T et. al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration.

[^]
212.

Tang M et. al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

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Update: Sept. 26, 2018