| Literature DB >> 11431687 |
O T Njajou1, 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.
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.Entities:
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Year: 2001 PMID： 11431687 DOI： 10.1038/90038
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330