RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

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 n...

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Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2016
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5063318/
https://ncbi.nlm.nih.gov/pubmed/27736983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0164759
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