Article
Phenotype variation in C282Y homozygotes for the hemochromatosis gene.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 Oct 2005
Lazarescu Adriana, Snively Beverly M, Adams Paul C
Abstract excerpt
BACKGROUND & AIMS: Typical hemochromatosis patients are homozygous for the C282Y mutation of the HFE gene. However, approximately 50% of women and 20% of men do not have an increase in serum ferritin level. This study assessed factors, genetic and otherwise, that may modify biochemical expression in C282Y homozygotes. METHODS: Hemochromatosis families that each had at least 2 untreated C282Y homozygotes were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.