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

doi:10.1161/JAHA.115.001862

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Article

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

Journal of the American Heart Association - 11 May 2015

Moteki Yosuke, Onda Hideaki, Kasuya Hidetoshi, Yoneyama Taku, Okada Yoshikazu, Hirota Kengo, Mukawa Maki, Nariai Tadashi, Mitani Shohei, Akagawa Hiroyuki

Abstract excerpt

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 RNF213 variants remains largely unknown. In the present study, we systematically evaluated the coding variants...

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PMID: 25964206
DOI: 10.1161/JAHA.115.001862
PMCID: PMC4599414

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