Article
Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?
Blood cells, molecules & diseases - 1 Aug 1997
Aguilar Martinez P, Biron C, Blanc F, Masmejean C, Jeanjean P, Michel H, Schved J F
Abstract excerpt
Two mutations have been described on the gene considered to be responsible for genetic hemochromatosis, the HLA-H or HFE gene. The C282Y mutation is a disease-causing mutation in most cases of genetic hemochromatosis, but involvment of the H63D substitution in the pathogenesis of the disease is u...
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