Article
Haemochromatosis and HFE gene.
Acta gastro-enterologica Belgica - 1 Jan 2000
Moirand R, Deugnier Y, Brissot P
Abstract excerpt
The discovery of the HFE gene has improved classification and diagnosis of iron overload. Most patients with a phenotypic diagnosis of haemochromatosis are homozygote for the C282Y mutation. Among those with other genotypes, only compound heterozygotes, who present the C282Y mutation on one chromosome and the H63D on the other, may present with haemochromatosis, but with a low penetrance and a mild expression....
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