Article
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Stroke - 1 Nov 2014
Cecchi Alana C, Guo Dongchuan, Ren Zhao, Flynn Kelly, Santos-Cortez Regie Lyn P, Leal Suzanne M, Wang Gao T, Regalado Ellen S, Steinberg Gary K, Shendure Jay, Bamshad Michael J, Grotta James C, Nickerson Deborah A, Pannu Hariyadarshi, Milewicz Dianna M
Abstract excerpt
BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease resulting from occlusion of the distal internal carotid arteries. A variant in the Ring Finger 213 gene (RNF213), altering arginine at position 4810 (p.R4810K), is associated with MMD in Asian populations. However, there are a lack of data on the role of RNF213 in patients with MMD of additional ethnicities...
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