A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient | |
Miao, Jing; Wei, Xiao-jing; Liu, Xue-mei; Kang, Zhi-xia; Gao, Yan-lu; Yu, Xue-fan | |
刊名 | BMC NEUROLOGY |
2018 | |
卷号 | 18 |
关键词 | Myotonia congenita Autosomal recessive Case report CLCN1 gene |
ISSN号 | 1471-2377 |
URL标识 | 查看原文 |
语种 | 英语 |
内容类型 | 期刊论文 |
URI标识 | http://www.corc.org.cn/handle/1471x/3536418 |
专题 | 吉林大学白求恩第一医院 |
推荐引用方式 GB/T 7714 | Miao, Jing,Wei, Xiao-jing,Liu, Xue-mei,et al. A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient[J]. BMC NEUROLOGY,2018,18. |
APA | Miao, Jing,Wei, Xiao-jing,Liu, Xue-mei,Kang, Zhi-xia,Gao, Yan-lu,&Yu, Xue-fan.(2018).A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient.BMC NEUROLOGY,18. |
MLA | Miao, Jing,et al."A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401+1G > A) in CLCN1 gene of a Chinese Han patient".BMC NEUROLOGY 18(2018). |
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