Article
Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals
20 Nov 2015
Abstract excerpt
BACKGROUND: Moyamoya disease (MMD) is a progressive steno-occlusive vasculopathy that involves large intracranial arteries accompanied by abnormal collateral vessels. Recently, RNF213 was identified as a susceptibility gene for MMD and p.Arg4810Lys (rs112735431) is the most common variant in East Asian MMD patients. Interestingly, many studies have reported that a certain proportion of the general population in...
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