Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review

BackgroundHomozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL). The relationship between some heterozygous mutations, most of w...

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Bibliographic Details
Main Authors: Weijie Chen, Yuanyuan Wang, Shengwen Huang, Xiaoli Yang, Liwei Shen, Danhong Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Neurology
Subjects:
HTRA1
cerebral small vessel disease
nonsense
ischemic stroke
heterozygous mutations
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.1069453/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.1069453/full

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