IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease
Li, H; Sun, XK; Zhu, XJ
关键词ATP2C1 gene Hailey-Hailey disease mutation
刊名BRITISH JOURNAL OF DERMATOLOGY
2003-09-01
149期:3页:471-474
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 ; PUMP
英文摘要

Background Familial benign chronic pemphigus or Hailey - Hailey disease (HHD; OMIM 169600) is an autosomal dominant blistering disease. Pathogenic mutations in ATP2C1 encoding a novel Ca2+ pump have recently been identified.

Objectives To identify mutations in ATP2C1 in Chinese patients with HHD.

Methods Eleven unrelated Chinese patients with HHD were subjected to mutation detection in ATP2C1. Eight of them had a family history of HHD. The 27 coding exons and their flanking sequences were amplified and sequenced.

Results Five of the 11 patients were identified to have heterozygous mutations including three nonsense mutations and two splicing mutations in ATP2C1.

Conclusions Four novel mutations, nonsense mutations S887X and W795X and splicing mutations 118-1 g --> a and 1890+1del(gtgag) ins53, were found in this series of Chinese patients with HHD.

语种英语
WOS记录号WOS:000185534600005
Citation statistics
Cited Times:22[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60128
Collection北京大学第一临床医学院_皮肤性病科
作者单位Peking Univ First Hosp, Dept Dermatol, Beijing 100034, Peoples R China
Recommended Citation
GB/T 7714
Li, H,Sun, XK,Zhu, XJ. Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease[J]. BRITISH JOURNAL OF DERMATOLOGY,2003,149(3):471-474.
APA Li, H,Sun, XK,&Zhu, XJ.(2003).Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease.BRITISH JOURNAL OF DERMATOLOGY,149(3),471-474.
MLA Li, H,et al."Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease".BRITISH JOURNAL OF DERMATOLOGY 149.3(2003):471-474.
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