Article
Penetrance of the C28Y/C282Y genotype of the HFE gene.
Scandinavian journal of gastroenterology - 1 Sept 2007
Asberg Arne, Hveem Kristian, Kannelønning Kjell, Irgens Wenche Øiestad
Abstract excerpt
OBJECTIVE: Hereditary hemochromatosis is a common genetic disease caused by accumulation of iron in the body. Most cases are homozygous for the C282Y mutation in the HFE gene, but only a minority of homozygotes will ever suffer from clinical hemochromatosis. Estimates of the penetrance of the C282Y/C282Y genotype vary greatly. The purpose of this study was to estimate the penetrance using a stringent definition,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
