title: Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
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.
authors.affiliation: Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Roetto
authors.forename: George
authors.initials: G
authors.lastname: Papanikolaou
authors.forename: Marianna
authors.initials: M
authors.lastname: Politou
authors.forename: Federica
authors.initials: F
authors.lastname: Alberti
authors.forename: Domenico
authors.initials: D
authors.lastname: Girelli
authors.forename: John
authors.initials: J
authors.lastname: Christakis
authors.forename: Dimitris
authors.initials: D
authors.lastname: Loukopoulos
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000595:Amino Acid Sequence; D023181:Antimicrobial Cationic Peptides / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D064451:Hepcidins; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; D064451:Hepcidins