Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

Nat Genet 2003 Jan 9;33(1):21-2. Epub 2002 Dec 9.

Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.

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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http://www.nature.com/articles/ng1053
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http://dx.doi.org/10.1038/ng1053DOI Listing
January 2003
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