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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

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NATURE GENETICS
卷 28, 期 3, 页码 213-214

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NATURE AMERICA INC
DOI: 10.1038/90038

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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.

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