We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
- Authors
Njajou, O T; Vaessen, N; Joosse, M; Berghuis, B; van Dongen, J W; Breuning, M H; Snijders, P J; Rutten, W P; Sandkuijl, L A; Oostra, B A; van Duijn, C M; Heutink, P
- 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.
- Publication
Nature genetics, 2001, Vol 28, Issue 3, p213
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/90038