2. Academic Validation
  3. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

  • Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038.
O T Njajou 1,  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

Affiliation

  • 1 Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
PMID: 11431687 DOI: 10.1038/90038
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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