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Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease

BACKGROUND: A founder variant of RNF213, p.R4810K (c.14429G>A, rs112735431), was recently identified as a major genetic risk factor for moyamoya disease (MMD) in Japan. Although the association of p.R4810K was reported to be highly significant and reproducible, the disease susceptibility of other...

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Detalles Bibliográficos
Autores principales:	Moteki, Yosuke, Onda, Hideaki, Kasuya, Hidetoshi, Yoneyama, Taku, Okada, Yoshikazu, Hirota, Kengo, Mukawa, Maki, Nariai, Tadashi, Mitani, Shohei, Akagawa, Hiroyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Ltd 2015
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599414/ https://www.ncbi.nlm.nih.gov/pubmed/25964206 http://dx.doi.org/10.1161/JAHA.115.001862

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