Article
Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation.
Hepatology (Baltimore, Md.) - 1 Aug 1998
Shaheen N J, Bacon B R, Grimm I S
Abstract excerpt
Approximately 85% of patients with typical hereditary hemochromatosis (HH) are homozygous for the C282Y mutation (C282Y/C282Y) in the recently identified candidate gene for HH. However, some HH patients are instead homozygous for the wild-type allele (wt/wt) at this locus. These wt/wt patients may represent a phenotypically similar, but genotypically different, heritable trait, or may be unrecognized cases of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.