RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis.

doi:10.1038/s10038-018-0428-9

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Article

RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis.

Journal of human genetics - 1 May 2018

Yeung Wing Tung Esther, Mizuta Ikuko, Watanabe-Hosomi Akiko, Yokote Akiyoshi, Koizumi Takashi, Mukai Mao, Kinoshita Masako, Ohara Tomoyuki, Mizuno Toshiki

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by NOTCH3, primarily affects small cerebral arteries; however, stenosis of major intracranial arteries has occasionally been reported. Recent studies identified a close association between the c.14576G>A (p.R4859K, rs112735431) variant of the ring finger protein 213 (RNF213) gene and sporadic intracranial...

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PMID: 29500468
DOI: 10.1038/s10038-018-0428-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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