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学科主题: 临床医学
题名:
Identification of a novel U2HR mutation c.14C > T in a Chinese patient with Marie Unna hereditary hypotrichosis
作者: 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
发表日期: 2012
DOI: 10.1684/ejd.2011.1573
卷: 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
所属项目编号: RDB2009-27
项目资助者: Peking University People&prime ; s Hospital
WOS记录号: WOS:000301818400008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50511
Appears in Collections:北京大学第二临床医学院_皮科_期刊论文

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作者单位: Peking Univ, Peoples Hosp, Dept Dermatol, Beijing 100044, Peoples R China

Recommended Citation:
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.
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