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Medline ® Abstract for Reference 6

of 'Regulation of iron balance'

6
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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
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Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C
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Nat Genet. 2003;33(1):21. Epub 2002 Dec 9.
 
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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Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.
PMID