A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis
2001-07-20
Article
volume 28, issue 3 pp 213-214.
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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.
Keywords
- Male
- Human
- Female
- *Mutation
- Amino Acid Sequence
- Molecular Sequence Data
- Sequence Homology, Amino Acid
- Linkage (Genetics)
- Pedigree
- Hemochromatosis/*genetics
- 0 (Carrier Proteins)
- Genes, Dominant
- Diabetes and related disorders
- 11096-37-0 (Transferrin)
- 9007-73-2 (Ferritin)
- Ferritin/blood
- *Cation Transport Proteins
- 0 (Cation Transport Proteins)
- Carrier Proteins/*genetics
- 0 (metal transporting protein 1)
- Transferrin/analysis
