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Identification of a novel U2HR mutation c.14C > T in a Chinese patient with Marie Unna hereditary hypotrichosis
Zhou, Cheng; Zang, Dongjie; Ma, Xiaolei; Huang, Haiyan; Jin, Yan; Zhang, Jianzhong
关键词Marie Unna Hereditary Hypotrichosis Mutation U2hr
刊名EUROPEAN JOURNAL OF DERMATOLOGY
2012
DOI10.1684/ejd.2011.1573
22期:1页:34-35
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]GENE ; SIMPLEX ; FAMILY ; LOCUS
英文摘要

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of non-syndromic hereditary alopecia. Recently, loss-of-function mutations of an inhibitory upstream open reading frame (ORF) in the human hairless gene (HR), named U2HR, have been identified in some patients with MUHH. We investigated a sporadic Chinese patient with MUHH and identified a novel mutation in U2HR, c.14C>T (p.T5M), which extends the mutation spectrum of U2HR mutations.

语种英语
WOS记录号WOS:000301818400008
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50511
专题北京大学第二临床医学院_皮科
北京大学临床肿瘤学院_胸部肿瘤外一科
作者单位Peking Univ, Peoples Hosp, Dept Dermatol, Beijing 100044, Peoples R China
推荐引用方式
GB/T 7714
Zhou, Cheng,Zang, Dongjie,Ma, Xiaolei,et al. Identification of a novel U2HR mutation c.14C > T in a Chinese patient with Marie Unna hereditary hypotrichosis[J]. EUROPEAN JOURNAL OF DERMATOLOGY,2012,22(1):34-35.
APA Zhou, Cheng,Zang, Dongjie,Ma, Xiaolei,Huang, Haiyan,Jin, Yan,&Zhang, Jianzhong.(2012).Identification of a novel U2HR mutation c.14C > T in a Chinese patient with Marie Unna hereditary hypotrichosis.EUROPEAN JOURNAL OF DERMATOLOGY,22(1),34-35.
MLA Zhou, Cheng,et al."Identification of a novel U2HR mutation c.14C > T in a Chinese patient with Marie Unna hereditary hypotrichosis".EUROPEAN JOURNAL OF DERMATOLOGY 22.1(2012):34-35.
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