A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis - PubMed (original) (raw)
N Vaessen, M Joosse, B Berghuis, J W van Dongen, M H Breuning, P J Snijders, W P Rutten, L A Sandkuijl, B A Oostra, C M van Duijn, P Heutink
Affiliations
- PMID: 11431687
- DOI: 10.1038/90038
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
O T Njajou et al. Nat Genet. 2001 Jul.
Abstract
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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