| Literature DB >> 12469120 |
Antonella Roetto1, George Papanikolaou, Marianna Politou, Federica Alberti, Domenico Girelli, John Christakis, Dimitris Loukopoulos, Clara Camaschella.
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.Entities:
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Year: 2002 PMID： 12469120 DOI： 10.1038/ng1053
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330