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MECP2 gene mutation analysis in Chinese patients with Rett syndrome
Pan, H; Wang, YP; Bao, XH; Meng, HD; Zhang, Y; Wu, XR; Shen, Y
关键词Rett syndrome MECP2 gene mutation
刊名EUROPEAN JOURNAL OF HUMAN GENETICS
2002-08-01
DOI10.1038/sj.ejhg.5200827
10期:8页:484-486
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity
研究领域[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity
英文摘要

Rett syndrome (RTT) is a progressive neurodevelopmental disorder that affects almost exclusively girls. Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause. In order to study the spectrum of MECP2 mutations in Chinese patients, we employed PCR and sequencing of the coding region of MECP2 gene in 31 Chinese cases of classical sporadic RTT. Mutations in MECP2 were found in about 55%. Twelve different mutations in exon 3 were identified in 17 of these 31 patients; two of these are novel. A novel missense variant was detected in the C-terminal region in a patient and her father who was normal. In addition, there was a single nucleotide variant in the 3′UTR.

语种英语
WOS记录号WOS:000177267300006
引用统计
被引频次:15[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/400002259/61088
专题北京大学第一临床医学院_儿科
作者单位1.Chinese Acad Med Sci, Inst Basic Med Sci, Dept Biochem & Mol Biol, Beijing 100005, Peoples R China
2.PUMC, Beijing 100005, Peoples R China
3.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
4.Chinese Natl Human Genome Ctr, Beijing 100176, Peoples R China
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GB/T 7714
Pan, H,Wang, YP,Bao, XH,et al. MECP2 gene mutation analysis in Chinese patients with Rett syndrome[J]. EUROPEAN JOURNAL OF HUMAN GENETICS,2002,10(8):484-486.
APA Pan, H.,Wang, YP.,Bao, XH.,Meng, HD.,Zhang, Y.,...&Shen, Y.(2002).MECP2 gene mutation analysis in Chinese patients with Rett syndrome.EUROPEAN JOURNAL OF HUMAN GENETICS,10(8),484-486.
MLA Pan, H,et al."MECP2 gene mutation analysis in Chinese patients with Rett syndrome".EUROPEAN JOURNAL OF HUMAN GENETICS 10.8(2002):484-486.
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