| 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 | |
| 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 |
| 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 | |
| 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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