Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease

PURPOSE: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by stenosis of the internal carotid arteries with compensatory development of collateral vessels. Although a founder variant of RNF213, p.Arg4810Lys (c.14429G>A, rs112735431), is a major genetic risk factor for MMD i...

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Publicado en:PLoS One
Autores principales: Jang, Mi-Ae, Chung, Jong-Won, Yeon, Je Young, Kim, Jong-Soo, Hong, Seung Chyul, Bang, Oh Young, Ki, Chang-Seok
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2017
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5472300/
https://ncbi.nlm.nih.gov/pubmed/28617845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0179689
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