论文期刊

取消

高级检索

检索历史清除

首页> Neuroscience letters> Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.

导出 LinkOut

翻译打印收藏纠错

作者： Zhanjun,Wang ^[1] ; Yang,Song ^[1] ; Xianling,Wang ^[1] ; Xuying,Li ^[2] ; Fanxi,Xu ^[1] ; Lianghao,Si ^[1] ; Yue,Dong ^[1] ; Tingyan,Yao ^[1] ; Junge,Zhu ^[1] ; Hong,Lai ^[1] ; Wei,Li ^[1] ; Feng,Lin ^[3] ; Huapin,Huang ^[3] ; Chaodong,Wang ^[4]

作者单位： Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China. ^[1] Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China; Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China. ^[2] Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, China. ^[3] Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China. Electronic address: cdongwang01@126.com. ^[4]

关键词 Autosomal recessive spastic ataxia of Charlevoix-Saguenay Novel mutations SACS gene Whole-exome sequencing

主题词成年人(Adult);儿童(Child);中国(China);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);热休克蛋白质类(Heat-Shock Proteins);人类(Humans);男(雄)性(Male);肌痉挛状态(Muscle Spasticity);突变(Mutation);脊髓小脑共济失调(Spinocerebellar Ataxias)

DOI 10.1016/j.neulet.2021.135831

PMID 33746006

发布时间 2022-12-07

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览3

Neuroscience letters

135831页

相似文献

中文期刊
外文期刊
学位论文
会议论文

浏览3

Neuroscience letters

135831页

相关期刊

特别提示：本网站仅提供医学学术资源服务，不销售任何药品和器械，有关药品和器械的销售信息，请查阅其他网站。

客服热线：4000-115-888 转3 (周一至周五：8:00至17:00)
|
客服邮箱：yiyao@wanfangdata.com.cn

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

官方微信

万方医学小程序

关于我们网站地图知识产权

北京万方数据股份有限公司

万方数据电子出版社

京ICP证010071号

京公网安备11010802020237号

京ICP备08100800号-1

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

new翻译充值订阅收藏移动端

官方微信

万方医学小程序

调查问卷