Article
Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease.
Neurosurgical focus - 1 Sept 2021
Ishisaka Eitaro, Watanabe Atsushi, Murai Yasuo, Shirokane Kazutaka, Matano Fumihiro, Tsukiyama Atsushi, Baba Eiichi, Nakagawa Shunsuke, Tamaki Tomonori, Mizunari Takayuki, Tanikawa Rokuya, Morita Akio
Abstract excerpt
OBJECTIVE: Quasi-moyamoya disease (QMMD) is moyamoya disease (MMD) associated with additional underlying diseases. Although the ring finger protein 213 (RNF213) c.14576G>A mutation is highly correlated with MMD in the Asian population, its relationship to QMMD is unclear. Therefore, in this study the authors sought to investigate the RNF213 c.14576G>A mutation in the genetic diagnosis and classification of QMMD....
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