Article
Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region.
Blood cells, molecules & diseases - 1 Jan 2000
Sachot S, Moirand R, Jouanolle A M, Mosser J, Fergelot P, Deugnier Y, Brissot P, le Gall J Y, David V
Abstract excerpt
The gene responsible for hemochromatosis (HFE) has been identified on the short arm of chromosome 6, 4.5 Mb telomeric to HLA-A. A major mutation C282Y is closely correlated with the disease, as it accounts for 68 to 100\% of the cases of hemochromatosis. Nevertheless, some C282Y homozygotes subjects have no clinical or biological expression of the disease. Moreover, in Northern European populations a large...
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