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[NOTCH3 gene mutations in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017

Sun Qiying, Li Wenwen, Zhou Yafang, Yi Fang, Wang Jianfeng, Hu Yacen, Yao Lingyan, Zhou Lin, Xu Hongwei

Abstract excerpt

OBJECTIVE: To analyze potential mutations of the NOTCH3 gene in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL). METHODS: The two probands and related family members and 100 healthy controls were recruited. Potential mutations of the NOTCH3 gene were screened by PCR and direct sequencing. PolyPhen-2 and SIFT software were used to...

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Source

Identifiers

PMID: 29188607
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.007

Genes

NOTCH3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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