Article
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.
PloS one - 1 Jan 2016
Kobayashi Hatasu, Brozman Miroslav, Kyselová Kateřina, Viszlayová Daša, Morimoto Takaaki, Roubec Martin, Školoudík David, Petrovičová Andrea, Juskanič Dominik, Strauss Jozef, Halaj Marián, Kurray Peter, Hranai Marián, Harada Kouji H, Inoue Sumiko, Yoshida Yukako, Habu Toshiyuki, Herzig Roman, Youssefian Shohab, Koizumi Akio
Abstract excerpt
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many non-p.R4810K rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic...
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