Article
Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan.
Neurologia medico-chirurgica - 15 Nov 2017
Takamatsu Yuichiro, Higashimoto Ken, Maeda Toshiyuki, Kawashima Masatou, Matsuo Muneaki, Abe Tatsuya, Matsushima Toshio, Soejima Hidenobu
Abstract excerpt
The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations. Numerous variant association studies for this MMD variant have been performed in Japan to date. Since another genetic study that utilized approximately 140,000 single nucleotide...
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