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Article

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Neurobiology of aging - 1 Mar 2014

Kim Young-Eun, Yoon Cindy W, Seo Sang Won, Ki Chang-Seok, Kim Young Bum, Kim Jong-Won, Bang Oh Young, Lee Kwang Ho, Kim Gyeong-Moon, Chung Chin-Sang, Na Duk L

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene on chromosome 19. Previous studies showed that NOTCH3 contains mutational hotspots that can vary among individuals of different ethnic backgrounds. In this study, we investigated the spectrum of NOTCH3 mutations in Korean patients with CADASIL. We retrospectively analyzed...

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Source

Identifiers

PMID: 24139282
DOI: 10.1016/j.neurobiolaging.2013.09.004

Genes

NOTCH3

Variants

Provenance

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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