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

    Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

    Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C.

    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.

    PMID: 12469120 [PubMed - indexed for MEDLINE]

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