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- Title
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
- Authors
Roetto, Antonella; Papanikolaou, George; Politou, Marianna; Alberti, Federica; Girelli, Domenico; Christakis, John; Loukopoulos, Dimitris; Camaschella, Clara
- 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.
- Subjects
ANTIMICROBIAL peptides; HEMOCHROMATOSIS; INBORN errors of metabolism
- Publication
Nature Genetics, 2003, Vol 33, Issue 1, p21
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1053