A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Authors
Njajou, OT Vaessen, N Joosse, M Berghuis, B van Dongen, JWF Breuning, MH Snijders, PJLM Rutten, WPF Sandkuijl, LA Oostra, BA van Duijn, CM Heutink, P
Citation
Ot. Njajou et al., A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, NAT GENET, 28(3), 2001, pp. 213-214
Citations number
15
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
28
Issue
3
Year of publication
2001
Pages
213 - 214
Database
ISI
SICI code
1061-4036(200107)28:3<213:AMISIA>2.0.ZU;2-A
Abstract
Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabo lism have been implicated in the pathology of HH (refs. 1-4). We report tha t a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC1 1A3). also known as ferroportin. is associated with autosomal dominant hemo chromatosis.