A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

被引：42
|
作者：
Haghighi, Alireza [1 ]
Scott, Claire A. [2 ]
Poon, Daniel S. [2 ]
Yaghoobi, Reza [3 ]
Saleh-Gohari, Nasrollah [4 ]
Plagnol, Vincent [5 ]
Kelsell, David P. [2 ]
机构：
[1] Univ Oxford, Nuffield Dept Clin Med, Wellcome Trust Ctr Human Genet, Oxford, England
[2] Queen Mary Univ London, Barts & London Sch Med & Dent, Ctr Cutaneous Res, Blizard Inst, London, England
[3] Ahvaz Jundishapur Univ Med Sci, Dept Dermatol, Ahvaz, Iran
[4] Kerman Univ Med Sci, Dept Genet, Kerman, Iran
[5] UCL, Genet Inst, London, England
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2013年 / 133卷 / 02期
关键词：
IFAP SYNDROME; CLEAVAGE; FOLLICULARIS; PROTEIN;
D O I：
10.1038/jid.2012.289
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：571 / 573
页数：3
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