Open AccessIdentification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion
Author(s) -
Satoru Miyawaki,
Hideaki Imai,
Shunsaku Takayanagi,
Akitake Mukasa,
Hirofumi Nakatomi,
Nobuhito Saito
Publication year - 2012
Publication title -
stroke
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.397
H-Index - 319
eISSN - 1524-4628
pISSN - 0039-2499
DOI - 10.1161/strokeaha.112.663864
Subject(s) - medicine , moyamoya disease , odds ratio , aneurysm , stenosis , confidence interval , occlusion , cardiology , surgery
The c.14576G>A variant in ring finger protein 213 (RNF213) was recently identified as a susceptibility gene variant for moyamoya disease (MMD). The occurrence of c.14576G>A variant was evaluated in patients with intracranial major artery stenosis/occlusion (ICASO) without signs of MMD (non-MMD ICASO), as well as in patients with MMD and other cerebrovascular diseases as controls.
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