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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...
Autores principales: | Jang, Mi-Ae, Shin, Sue, Yoon, Jong Hyun, Ki, Chang-Seok |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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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 |
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