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学科主题: 临床医学
题名:
ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort
作者: Ma, Yan; Tang, Lu; Chen, Lu; Zhang, Bin; Deng, Pan; Wang, Jingran; Yang, Yi; Liu, Rong; Yang, Yan; Ye, Shan; Liu, Xiaolu; Zhang, Huagang; Fan, Dongsheng
关键词: ARHGEF28 gene ; RGNEF protein ; ALS cohort
刊名: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
发表日期: 2014-06-01
DOI: 10.3109/21678421.2014.896926
卷: 15, 期:3-4, 页:309-311
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
英文摘要:

It was reported that the intron 6, + 1 del G (GT>TT) mutation of the ARHGEF28 gene generates a shortened protein that might be related to amyotrophic lateral sclerosis (ALS). We sequenced this mutation in 25 familial ALS (FALS), 357 sporadic ALS (SALS) patients, and 442 healthy control subjects. We found just two SALS patients exhibited the mutation so that the incidence of this mutation was 0.52% (2/382) of all the ALS patients. The clinical features of the mutation-positive patients were quite different from the case reported in a previous study. These characteristics differed in terms of gender, site of onset, cognitive function, and family history.

语种: 英语
项目资助者: National Natural Sciences Foundation of China ; Major Projects of the National Science and Technology of China
WOS记录号: WOS:000336386200025
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51681
Appears in Collections:北京大学第三临床医学院_神经内科_期刊论文

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作者单位: Peking Univ, Hosp 3, Dept Neurol, Beijing 100191, Peoples R China

Recommended Citation:
Ma, Yan,Tang, Lu,Chen, Lu,et al. ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort[J]. AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION,2014,15(3-4):309-311.
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