Article
Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives.
Gastroenterology - 1 Feb 1999
Moirand R, Jouanolle A M, Brissot P, Le Gall J Y, David V, Deugnier Y
Abstract excerpt
BACKGROUND & AIMS: Two mutations have been described in the HFE gene: C282Y and H63D. The aim of this study was to determine the phenotype of the different HFE genotypes. METHODS: Clinical symptoms and iron data were examined according to HFE genotypes in 531 unrelated patients with unexplained liver iron overload and 579 relatives of hemochromatotic patients. RESULTS: Non-C282Y +/+ patients did not markedly...
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