Article
Multicentric origin of hemochromatosis gene (HFE) mutations.
American journal of human genetics - 1 Apr 1999
Rochette J, Pointon J J, Fisher C A, Perera G, Arambepola M, Arichchi D S, De Silva S, Vandwalle J L, Monti J P, Old J M, Merryweather-Clarke A T, Weatherall D J, Robson K J
Abstract excerpt
Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. In a proportion of GH patients, two mutations are present, C282Y and H63D. The clinical significance of this second mutation is such that it...
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