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Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals

BACKGROUND: Moyamoya disease (MMD) is a progressive steno-occlusive vasculopathy that involves large intracranial arteries accompanied by abnormal collateral vessels. Recently, RNF213 was identified as a susceptibility gene for MMD and p.Arg4810Lys (rs112735431) is the most common variant in East As...

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Detalles Bibliográficos
Autores principales: Jang, Mi-Ae, Shin, Sue, Yoon, Jong Hyun, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654917/
https://www.ncbi.nlm.nih.gov/pubmed/26590131
http://dx.doi.org/10.1186/s12881-015-0252-4