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Article

A Novel Mutation Outside of the EGFr Encoding Exons of NOTCH3 Gene in a Chinese with CADASIL.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Dec 2020

Wang Wan, Ren Zhixia, Shi Yingying, Zhang Jiewen

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vascular disease caused by the mutations of the NOTCH3 gene. The NOTCH3 gene consists of 33 exons. The pathogenic mutations of the NOTCH3 gene in CADASIL are located in 2-24 exons coding for the 34 EGFr (epidermal growth factor-like repeat) domains. The classical clinical...

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Identifiers

PMID: 33254371
DOI: 10.1016/j.jstrokecerebrovasdis.2020.105410

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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