Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

BACKGROUND—First considered as a polymorphism of the HFE gene, the H63D mutation is now widely recognised as a haemochromatosis associated allele. But few H63D homozygotes with clinical manifestations of hereditary haemochromatosis (HH) have been reported. Concurrently, an increasing number of genes...

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Bibliografiske detaljer
Main Authors: Aguilar-Martinez, P, Bismuth, M, Picot, M, Thelcide, C, Pageaux, G, Blanc, F, Blanc, P, Schved, J, Larrey, D
Format: Artigo
Sprog:Inglês
Udgivet: 2001
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1728323/
https://ncbi.nlm.nih.gov/pubmed/11358905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/gut.48.6.836
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