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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.

Original publication

DOI

10.1038/90038

Type

Journal article

Journal

Nat Genet

Publication Date

07/2001

Volume

28

Pages

213 - 214

Keywords

Amino Acid Sequence, Carrier Proteins, Cation Transport Proteins, Female, Ferritins, Genes, Dominant, Genetic Linkage, Hemochromatosis, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Sequence Homology, Amino Acid, Transferrin