Fumarylacetoacetase
The FAH gene encodes the last enzyme in the tyrosine catabolism pathway. Mutations cause autosomal recessive hepatorenal tyrosinemia.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
None (1979) Abstracts of meeting presentations.
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2. |
Tedesco TA et al. (1975) The genetic defect in galactosemia.
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3. |
Kaufman F et al. (1979) Ovarian failure in galactosaemia.
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4. |
Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.
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5. |
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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6. |
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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7. |
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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8. |
Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.
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9. |
Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.
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10. |
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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11. |
Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
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12. |
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.
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13. |
Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.
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14. |
Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.
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15. |
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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16. |
Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.
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17. |
Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.
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18. |
Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.
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19. |
Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.
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20. |
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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21. |
Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.
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22. |
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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23. |
Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
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24. |
Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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25. |
Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.
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26. |
Brivet M et al. (1989) Effect of lactation in a mother with galactosemia.
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27. |
Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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28. |
Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.
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29. |
Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.
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30. |
Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.
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31. |
Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.
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32. |
Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.
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33. |
Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.
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34. |
Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.
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35. |
Kelly S et al. (1972) A Duarte variant with clinical signs.
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36. |
Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].
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37. |
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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38. |
None (1967) Clinical variants of galactosemia.
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39. |
Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
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40. |
Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.
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41. |
Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.
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42. |
Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.
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43. |
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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44. |
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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45. |
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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46. |
Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.
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47. |
Mulcahy MT et al. (1980) Where is the gene for GALT?
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48. |
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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49. |
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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50. |
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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51. |
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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52. |
Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.
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53. |
Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.
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54. |
Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.
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55. |
Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.
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56. |
Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.
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57. |
Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.
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58. |
Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.
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59. |
Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.
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60. |
Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
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61. |
Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.
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62. |
Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.
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63. |
Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.
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64. |
Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.
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65. |
Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.
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66. |
Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
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67. |
Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
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68. |
Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
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69. |
Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.
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70. |
Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.
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71. |
Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
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72. |
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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73. |
Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
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74. |
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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75. |
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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76. |
de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.
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77. |
Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.
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78. |
Elsas LJ et al. () The molecular biology of galactosemia.
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79. |
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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80. |
Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
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81. |
Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
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82. |
Webb AL et al. (2003) Verbal dyspraxia and galactosemia.
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83. |
DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.
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84. |
WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.
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85. |
BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.
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86. |
Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.
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87. |
None (2006) Classical galactosaemia revisited.
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88. |
Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
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89. |
Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
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90. |
Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
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91. |
Phaneuf D et al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
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92. |
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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93. |
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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94. |
St-Louis M et al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.
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95. |
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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96. |
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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97. |
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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98. |
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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99. |
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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100. |
Grompe M et al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
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101. |
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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102. |
Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
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103. |
St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
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104. |
Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.
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105. |
Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
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106. |
Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
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107. |
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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108. |
Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration.
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109. |
NCBI article
NCBI 2184
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110. |
OMIM.ORG article
Omim 613871
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111. |
Orphanet article
Orphanet ID 121686
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112. |
Wikipedia article
Wikipedia EN (Fumarylacetoacetate_hydrolase)
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Update: Aug. 14, 2020