Article
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
Hepatology (Baltimore, Md.) - 1 Mar 2010
Griffiths William J H, Mayr Roman, McFarlane Ian, Hermann Martin, Halsall David J, Zoller Heinz, Cox Timothy M
Abstract excerpt
UNLABELLED: Mutations in the SLC40A1 gene, which encodes ferroportin, are associated with autosomal dominant hemochromatosis. Ferroportin is inhibited directly by hepcidin, a key iron-regulatory peptide, and functional consequences of SLC40A1 mutations account for observed phenotypic differences...
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