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Article

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

Human genetics - 1 Oct 1997

Jouanolle A M, Fergelot P, Gandon G, Yaouanq J, Le Gall J Y, David V

Abstract excerpt

The gene whose alteration causes hereditary hemochromatosis (HFE according to the international nomenclature) was, more than 20 years ago, shown to map to 6p21.3. It has since escaped all efforts to identify it by positional cloning strategies. Quite recently, a gene named HLA-H was reported as being responsible for the disease. Two missense mutations, Cys282Tyr (C282Y) and His63Asp (H63D), were observed, but no...

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Identifiers

PMID: 9341868
DOI: 10.1007/s004390050549

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.PMID 9341868Read ↗

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Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)Semantic proximity Read ↗

Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany.Semantic proximity Read ↗

Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families.Semantic proximity Read ↗

The HLA-A1-B8 haplotype hitchhiking with the hemochromatosis mutation: does it affect the phenotype?Semantic proximity Read ↗

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A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.Semantic proximity Read ↗

Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin.Semantic proximity Read ↗

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