Objective: To explore Notch3 mutation sites of Chinese patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods: Direct sequencing of all exons in Notch3 gene was performed on 12 unrelated suspected CADASIL cases from mainland China. Result: A missense p. Arg587Cys (1759C>T) mutation in exon 11 was identified in 2 patients through genetic analysis. Conclusion: Chinese patients with CADASIL of R587C mutation in exon 11 was firstly reported. Key Words: CADASIL-mutations-Notch3 gene-stroke. (C) 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.
基金：
Natural Science
Foundation of Guangdong (No. 10151040701000064).
第一作者机构：[1]Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People’s Republic of China.[*1]Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, 111 Dade Road, Guangzhou, Guangdong 510120, People’s Republic of China.
通讯作者：
通讯机构：[1]Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People’s Republic of China.[*1]Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, 111 Dade Road, Guangzhou, Guangdong 510120, People’s Republic of China.
推荐引用方式(GB/T 7714)：
You Jinsong,Liao Shaojun,Zhang Foming,et al.First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL[J].JOURNAL OF STROKE & CEREBROVASCULAR DISEASES.2017,26(1):E1-E4.doi:10.1016/j.jstrokecerebrovasdis.2016.09.014.
APA：
You, Jinsong,Liao, Shaojun,Zhang, Foming,Ma, Zhaohui&Li, Guifu.(2017).First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL.JOURNAL OF STROKE & CEREBROVASCULAR DISEASES,26,(1)
MLA：
You, Jinsong,et al."First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL".JOURNAL OF STROKE & CEREBROVASCULAR DISEASES 26..1(2017):E1-E4
