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Nat Genet. 2001 Jul;28(3):213-4.

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Author information

1
Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.

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.

PMID:
11431687
DOI:
10.1038/90038
[Indexed for MEDLINE]

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