doi: 10.1038/ng1053.
Epub 2002 Dec 9.
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
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- PMID: 12469120
- DOI: 10.1038/ng1053
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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
Nat Genet.
2003 Jan.
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.
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