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

被引：43

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

页码：571 / 573

页数：3

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