Article
A primer for predicting risk of disease in HFE-linked hemochromatosis.
Genetic testing - 1 Jan 2001
Adams P C, Walker A P, Acton R T
Abstract excerpt
Since the discovery of the hemochromatosis gene (HFE) in 1996, there has been increasing interest in diagnostic testing for the C282Y and H63D mutations. The high frequency of these two alleles and their incomplete penetrance in homozygotes and compound heterozygotes make genetic counseling for hemochromatosis different from some other autosomal recessive conditions in that parents and children may also be at...
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