2001-07-20
A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis
Publication
Publication
Nature Genetics , Volume 28 - Issue 3 p. 213- 214
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.
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doi.org/10.1038/90038, hdl.handle.net/1765/5924 | |
Nature Genetics | |
Organisation | Erasmus MC: University Medical Center Rotterdam |
Njajou, O., Vaessen, N., Joosse, M., Berghuis, B., Breuning, M., Snijders, P., … Heutink, P. (2001). A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis. Nature Genetics, 28(3), 213–214. doi:10.1038/90038 |