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Article

Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan.

Journal of the neurological sciences - 1 Jan 2015

Lee Ming-Jen, Chen Ya-Fang, Fan Pi-Chuan, Wang Kuo-Chuan, Wang Kai, Wang Jinyuan, Kuo Meng-Fai

Abstract excerpt

Moyamoya disease (MMD) is a disorder characterized by stenosis of bilateral internal carotid arteries with compensatory angiogenesis of the perforating blood vessels. Familial transmission in MMD is common. Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD. The present study was to determine whether Taiwanese MMD patients carried mutations in these two genes. Of the 36...

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Source

Identifiers

PMID: 25956231
DOI: 10.1016/j.jns.2015.04.019

Genes

MMD
ACTA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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