Article
Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?
Annales de genetique - 1 Jan 1998
Jouanolle A M, Fergelot P, Raoul M L, Gandon G, Roussey M, Deugnier Y, Feingold J, Le Gall J Y, David V
Abstract excerpt
Hemochromatosis (GH) is an inborn error of iron metabolism, characterized by progressive iron loading that, if untreated, causes high morbidity and death. The gene responsible for the disease (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes a protein homologous to class I MHC molecules. A main mutation, C282Y, has been identified within the gene. Although hemochromatosis is considered as the...
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