Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
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- 9 December 2002
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 33 (1) , 21-22
- https://doi.org/10.1038/ng1053
Abstract
Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.Keywords
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