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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Roetto A,Papanikolaou G,Politou M,Alberti F,Girelli D,Christakis J,Loukopoulos D,Camaschella C

doi

10.1038/ng1053

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

21-2

issue

1

eissn

1061-4036

issn

1546-1718

pii

ng1053

journal_volume

33

pub_type

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