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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)21-22
Number of pages2
JournalNature Genetics
Volume33
Issue number1
DOIs
Publication statusPublished - Jan 1 2003

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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