Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

被引：668

作者：

Roetto, A

Papanikolaou, G

Politou, M

Alberti, F

Girelli, D

Christakis, J

Loukopoulos, D

Camaschella, C ^{[1
]}

机构：

[1] Univ Turin, Dept Clin & Biol Sci, Azienda Osped San Luigi, I-10043 Orbassano, Italy

[2] Univ Athens, Sch Med, Dept Med 1, Laikon Hosp, GR-11527 Athens, Greece

[3] Univ Verona, Dept Clin & Expt Med, I-37100 Verona, Italy

[4] Theagenio Canc Ctr, Dept Hematol, Thessaloniki, Greece

来源：

NATURE GENETICS | 2003年 / 33卷 / 01期

关键词：

D O I：

10.1038/ng1053

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：21 / 22

页数：2

共 15 条

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