Article
A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.
Gastroenterology - 1 Jun 1999
Wallace D F, Dooley J S, Walker A P
Abstract excerpt
BACKGROUND & AIMS: Most patients with genetic hemochromatosis are homozygous for a single mutation of the HFE gene (C282Y). There is a second mutation, H63D, but its role in iron overload is less conclusive. The aim of this study was to investigate the basis of iron overload in a patient with classical hemochromatosis who was only heterozygous for C282Y and negative for H63D. METHODS: Genotype for the C282Y,...
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