Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study

• 主要な著者: Xin Liao (著者), Tong Zhang (著者), Bingyang Li (著者), Shimin Hu (著者), Junyu Liu (著者), Jing Deng (著者), Hongzhuan Tan (著者), Junxia Yan (著者)
• フォーマット: 図書
• 出版事項: BMC, 2019-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic heterogeneity, we performed target exome sequencing of RNF213 with the a...