Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.

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 As...

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Bibliographic Details
Main Authors: Mi-Ae Jang, Jong-Won Chung, Je Young Yeon, Jong-Soo Kim, Seung Chyul Hong, Oh Young Bang, Chang-Seok Ki
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5472300?pdf=render

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http://europepmc.org/articles/PMC5472300?pdf=render

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