Hemochromatosis 2a

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Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis.

None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean.

Goei VL et al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection.

Yaouanq J et al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

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el Kahloun A et al. (1993) Localization of seven new genes around the HLA-A locus.

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Roth M et al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.

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None (1997) The significance of the 187G (H63D) mutation in hemochromatosis.

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None (1997) Haemochromatosis, HFE and genetic complexity.

Mura C et al. (1997) Phenotype-genotype correlation in haemochromatosis subjects.

Camaschella C et al. () Juvenile and adult hemochromatosis are distinct genetic disorders.

None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.

Feder JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

None (1998) Targeted disruption of the HFE gene.

Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis.

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None (1998) Celtic origin of the C282Y mutation of hemochromatosis.

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Kelly AL et al. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.

Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.

Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.

Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations.

Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.

Mura C et al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

Roetto A et al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q.

Levy JE et al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.

Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis.

de Villiers JN et al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

Jeffrey GP et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.

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Ka C et al. (2005) The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

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Waalen J et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

None (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

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Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

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Brakensiek K et al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

Cippà PE et al. (2013) Increased height in HFE hemochromatosis.

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OMIM.ORG article