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学科主题临床医学
ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort
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
2014-06-01
DOI10.3109/21678421.2014.896926
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
资助者National Natural Sciences Foundation of China ; Major Projects of the National Science and Technology of China ; National Natural Sciences Foundation of China ; Major Projects of the National Science and Technology of China
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
资助者National Natural Sciences Foundation of China ; Major Projects of the National Science and Technology of China ; National Natural Sciences Foundation of China ; Major Projects of the National Science and Technology of China
WOS记录号WOS:000336386200025
Citation statistics
Cited Times:9[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/400002259/51681
Collection北京大学第三临床医学院_神经内科
作者单位Peking Univ, Hosp 3, Dept Neurol, Beijing 100191, Peoples R China
Recommended Citation
GB/T 7714
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.
APA Ma, Yan.,Tang, Lu.,Chen, Lu.,Zhang, Bin.,Deng, Pan.,...&Fan, Dongsheng.(2014).ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort.AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION,15(3-4),309-311.
MLA Ma, Yan,et al."ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort".AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION 15.3-4(2014):309-311.
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