Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

被引：374
作者：
Küry, S
Dréno, B
Bézieau, S
Giraudet, S
Kharfi, M
Kamoun, R
Moisan, JP
机构：
[1] Fac Med, Lab Etud Polymorphisme ADN, F-44035 Nantes, France
[2] Hop Hotel Dieu, Ctr Hosp Univ, Serv Dermatol, F-44093 Nantes, France
[3] Hop Charles Nicolle, Serv Dermatol, Tunis, Tunisia
来源：
NATURE GENETICS | 2002年 / 31卷 / 03期
关键词：
D O I：
10.1038/ng913
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
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页码：239 / 240
页数：2
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