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Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.

Neurogenetics - 1 Jan 2022

Min Ji-You, Park Seo-Jin, Kang Eun-Joo, Hwang Seung-Yong, Han Sung-Hee

Abstract excerpt

CADASIL is an inherited disease caused by mutations in the NOTCH3 gene. We aimed to investigate the mutation and clinical spectrum, and genotype-phenotype correlations of Korean CADASIL patients. Samples from 492 clinically suspicious patients were collected from four hospitals. Sanger sequencing was performed to screen exons 2 to 25 of the NOTCH3 gene and variants of unknown significance (VUS) were analyzed...

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PMID: 34741685
DOI: 10.1007/s10048-021-00674-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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