Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

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 c...

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Detalles Bibliográficos
Autores principales: Wang, Yue, Zhang, Zhengshan, Wei, Ling, Zhang, Qian, Zou, Zhengxing, Yang, Luping, Li, Desheng, Shang, Mengke, Han, Cong, Mambiya, Michael, Li, Qian, Hao, Fangbin, Zhang, Kaili, Wang, Hui, Liu, Shan, Liu, Mengwei, Zeng, Fanxin, Nie, Fangfang, Wang, Kai, Liu, Wanyang, Duan, Lian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176299/
https://www.ncbi.nlm.nih.gov/pubmed/31949090
http://dx.doi.org/10.1212/WNL.0000000000008901

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