Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Antonella Roettol; George Papanikolaou; Marianna Politou; Federica Alberti; Domenico Girelli; John Christakis; Dimitris Loukopoulos; Clara Camaschella

doi:10.1038/ng1053

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Antonella Roettol, George Papanikolaou, Marianna Politou, Federica Alberti, Domenico Girelli, John Christakis, Dimitris Loukopoulos, Clara Camaschella

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

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 (93deIG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

Original language	English
Pages (from-to)	21-22
Number of pages	2
Journal	Nature Genetics
Volume	33
Issue number	1
DOIs	https://doi.org/10.1038/ng1053
Publication status	Published - Jan 1 2003

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1038/ng1053

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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 (93deIG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.",

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AU - Alberti, Federica

AU - Girelli, Domenico

AU - Christakis, John

AU - Loukopoulos, Dimitris

AU - Camaschella, Clara

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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Abstract

ASJC Scopus subject areas

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