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Article

Phenotype-genotype correlation in haemochromatosis subjects.

Human genetics - 1 Dec 1997

Mura C, Nousbaum J B, Verger P, Moalic M T, Raguenes O, Mercier A Y, Ferec C

Abstract excerpt

Haemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. A candidate gene was recently identified (HLA-H) and two amino acid substitutions (C282Y and H63D) were characterized. Haemochromatosis probands (n = 478) from Brittany were selected from their iron status markers, primarily serum iron, serum ferritin and transferrin saturation. We investigated the relationships between...

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Identifiers

PMID: 9439654
DOI: 10.1007/s004390050628

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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.

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Phenotype-genotype correlation in haemochromatosis subjects.PMID 9439654Read ↗

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