Article
Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease.
Neurology - 18 Feb 2020
Wang Yue, Zhang Zhengshan, Wei Ling, Zhang Qian, Zou Zhengxing, Yang Luping, Li Desheng, Shang Mengke, Han Cong, Mambiya Michael, Bao Xiangyang, Li Qian, Hao Fangbin, Zhang Kaili, Wang Hui, Liu Shan, Liu Mengwei, Zeng Fanxin, Nie Fangfang, Wang Kai, Liu Wanyang, Duan Lian
Abstract excerpt
OBJECTIVE: Precise genetic analyses were conducted with ring finger protein 213 (RNF213) in relation to a particular clinical phenotype in Chinese patients with moyamoya disease (MMD) to determine whether heterozygosity is responsible for the early-onset and severe form of this disease. METHODS: A case-control study for RNF213 p.R4810K involving 1,385 Chinese patients with MMD and 2,903 normal control...
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