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Article

HFE based re-evaluation of heterozygous hemochromatosis.

American journal of medical genetics - 1 Sept 2002

Moirand Romain, Guyader Dominique, Mendler Michel Henry, Jouanolle Anne Marie, Le Gall Jean Yves, David Véronique, Brissot Pierre, Deugnier Yves

Abstract excerpt

Homozygosity for the C282Y mutation in the HFE gene is strongly associated with hereditary hemochromatosis. More than one subject out of 10 in the general population is a heterozygote for the C282Y mutation. In this study, we address whether or not conclusions drawn from HLA-based family studies regarding the expression of heterozygous hemochromatosis are applicable to C282Y heterozygotes. The correlation between...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12210292
DOI: 10.1002/ajmg.10547

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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HFE based re-evaluation of heterozygous hemochromatosis.PMID 12210292Read ↗

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