A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
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Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038.
- PubMed ID
- 11431687 [ View in PubMed]
- 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.