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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

Nature genetics

Publication Date

07/2001

Volume

28

Pages

213 - 214

Addresses

Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.

Keywords

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