Article
Polymorphisms in the HFE gene.
Human heredity - 1 Jan 1999
Douabin V, Moirand R, Jouanolle A, Brissot P, Le Gall J, Deugnier Y, David V
Abstract excerpt
Hereditary hemochromatosis is an autosomal recessive disease characterized by progressive iron overload. Recently, a candidate gene named HFE was isolated on the short arm of the chromosome 6 within which two mutations were identified: C282Y and H63D. To date, only homozygosity for the C282Y mutation is considered as a diagnostic criterion of hemochromatosis. 7.6% of the patients studied in our laboratory did not...
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