title: A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
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.
authors: Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
authors: O T
authors: OT
authors: Njajou
authors: N
authors: N
authors: Vaessen
authors: M
authors: M
authors: Joosse
authors: B
authors: B
authors: Berghuis
authors: J W
authors: JW
authors: van Dongen
authors: M H
authors: MH
authors: Breuning
authors: P J
authors: PJ
authors: Snijders
authors: W P
authors: WP
authors: Rutten
authors: L A
authors: LA
authors: Sandkuijl
authors: B A
authors: BA
authors: Oostra
authors: C M
authors: CM
authors: van Duijn
authors: P
authors: P
authors: Heutink
mesh_terms: D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D005260:Female; D005293:Ferritins / Q000097:blood; D005799:Genes, Dominant; D008040:Genetic Linkage; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D014168:Transferrin / Q000032:analysis; D000098742:Ferroportin
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D014168:Transferrin; D000098742:Ferroportin; D005293:Ferritins