Article
Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.
Scientific reports - 12 Nov 2021
Murai Yasuo, Ishisaka Eitaro, Watanabe Atsushi, Sekine Tetsuro, Shirokane Kazutaka, Matano Fumihiro, Nakae Ryuta, Tamaki Tomonori, Koketsu Kenta, Morita Akio
Abstract excerpt
The ring finger protein 213 (RNF213) susceptibility gene has been detected in more than 80% of Japanese and Korean patients with moyamoya disease (MMD), a bilateral internal carotid artery (ICA) occlusion. Furthermore, RNF213 has been detected in more than 20% of East Asians with atherosclerotic ICA stenosis. In this study, we evaluated the frequency of RNF213 mutations in congenital occlusive lesions of the ICA...
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