Article
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.
PloS one - 1 Jan 2017
Jang Mi-Ae, Chung Jong-Won, Yeon Je Young, Kim Jong-Soo, Hong Seung Chyul, Bang Oh Young, Ki Chang-Seok
Abstract excerpt
PURPOSE: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by stenosis of the internal carotid arteries with compensatory development of collateral vessels. Although a founder variant of RNF213, p.Arg4810Lys (c.14429G>A, rs112735431), is a major genetic risk factor for MMD in East Asians, the frequency and disease susceptibility of other variants in this gene remain largely unknown. In the...
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