A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation-Reference-Cited by-同舟云学术

A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation

Published:2021-09-24 Issue:11 Volume:35 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Liu Jiahui¹,Zhang Qiaoyu¹,Wang Qi¹,Luan Siyu¹,Dong Xiang¹,Cao Hua¹^ORCID,Tao Dingbo¹,Dong Huijie²,Ji Xiaofei¹^ORCID

Affiliation:

1. Department of Neurology First Affiliated Hospital of Dalian Medical University Dalian China

2. Department of Cardiology Second Affiliated Hospital of Dalian Medical University Dalian China

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.24027

Reference26 articles.

1. A gene for familial hemiplegic migraine maps to chromosome 19

2. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

3. Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

4. Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

5. Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL

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