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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Publicado en:J Am Heart Assoc
Autores principales: Moteki, Yosuke, Onda, Hideaki, Kasuya, Hidetoshi, Yoneyama, Taku, Okada, Yoshikazu, Hirota, Kengo, Mukawa, Maki, Nariai, Tadashi, Mitani, Shohei, Akagawa, Hiroyuki
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Ltd 2015
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Original Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4599414/
https://ncbi.nlm.nih.gov/pubmed/25964206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/JAHA.115.001862
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