Article
A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria.
Journal of hepatology - 1 Apr 1999
Brissot P, Moirand R, Jouanolle A M, Guyader D, Le Gall J Y, Deugnier Y, David V
Abstract excerpt
BACKGROUND/AIMS: The HFE gene is a crucial candidate gene for hemochromatosis. The aims of this study were to assess the HFE genotypic profile in a large series of unrelated probands diagnosed as having phenotypic hemochromatosis, to characterize the sub-group of patients who were not homozygous for the major C282Y mutation, and to report the iron status of the detected HFE-identical siblings. METHODS: In 217...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.