doi: 10.1038/90038.
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
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- PMID: 11431687
- DOI: 10.1038/90038
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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
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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