北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 儿科  > 期刊论文
学科主题: 临床医学
题名:
MECP2 gene mutation analysis in Chinese patients with Rett syndrome
作者: 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
发表日期: 2002-08-01
DOI: 10.1038/sj.ejhg.5200827
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61088
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

Files in This Item:

There are no files associated with this item.


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

Recommended Citation:
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.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Pan, H]'s Articles
[Wang, YP]'s Articles
[Bao, XH]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Pan, H]‘s Articles
[Wang, YP]‘s Articles
[Bao, XH]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace