Article
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Nature genetics - 1 Jul 2001
Njajou O T, Vaessen N, Joosse M, Berghuis B, van Dongen J W, Breuning M H, Snijders P J, Rutten W P, Sandkuijl L A, Oostra B A, van Duijn C M, Heutink P
Abstract excerpt
Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.
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