Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2003 Jan;33(1):21-2.
doi: 10.1038/ng1053. Epub 2002 Dec 9.

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Antonella Roetto  1 , George Papanikolaou, Marianna Politou, Federica Alberti, Domenico Girelli, John Christakis, Dimitris Loukopoulos, Clara Camaschella
Affiliations

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Antonella Roetto et al. Nat Genet. 2003 Jan.

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.

PubMed Disclaimer

Publication types

LinkOut - more resources