Article
Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.
Neurologia medico-chirurgica - 1 Jan 2012
Liu Wanyang, Hitomi Toshiaki, Kobayashi Hatasu, Harada Kouji H, Koizumi Akio
Abstract excerpt
Moyamoya disease is an idiopathic vascular disorder of the intracranial arteries. Ring finger 213 (RNF213) was previously identified as the strongest susceptibility gene for moyamoya disease in East Asian people by a genome-wide linkage analysis and exome analysis. The coding variant p.R4810K in RNF213 was strongly associated with moyamoya disease in the Japanese (odds ratio: 338.94, p = 1.05 × 10(-100)) and...
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