RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease.

doi:10.1016/j.jstrokecerebrovasdis.2017.04.019

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Article

RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Aug 2017

Matsuda Yoshiko, Mineharu Yohei, Kimura Mitsuru, Takagi Yasushi, Kobayashi Hatasu, Hitomi Toshiaki, Harada Kouji H, Uchihashi Yoshito, Funaki Takeshi, Miyamoto Susumu, Koizumi Akio

Abstract excerpt

BACKGROUND: This study aimed to determine the effectiveness of genetic testing for the p.R4810K variant (rs112735431) of the Mysterin/RNF213 gene, which is associated with moyamoya disease and other intracranial vascular diseases, in the family members of patients with moyamoya disease. METHODS: We performed genotyping of the RNF213 p.R4810K polymorphism and magnetic resonance angiography on 59 relatives of 18...

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PMID: 28506590
DOI: 10.1016/j.jstrokecerebrovasdis.2017.04.019

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