A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

被引：363

作者：

Njajou, OT ^{[1
]}

Vaessen, N

Joosse, M

Berghuis, B

van Dongen, JWF

Breuning, MH

Snijders, PJLM

Rutten, WPF

Sandkuijl, LA

Oostra, BA

van Duijn, CM

Heutink, P

机构：

[1] Erasmus Univ, Dept Epidemiol & Biostat, Genet Epidemiol Unit, NL-3000 DR Rotterdam, Netherlands

[2] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands

[3] Leiden Univ, Med Ctr, Dept Anthropogenet, NL-2300 RA Leiden, Netherlands

[4] Stichting Huisarts Lab, Breda, Netherlands

来源：

NATURE GENETICS | 2001年 / 28卷 / 03期

关键词：

D O I：

10.1038/90038

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3). also known as ferroportin. is associated with autosomal dominant hemochromatosis.

引用

页码：213 / 214

页数：2

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