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

BACKGROUND: Homozygous 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...

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Detalles Bibliográficos
Autores principales: Chen, Weijie, Wang, Yuanyuan, Huang, Shengwen, Yang, Xiaoli, Shen, Liwei, Wu, Danhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9813394/
https://www.ncbi.nlm.nih.gov/pubmed/36619910
http://dx.doi.org/10.3389/fneur.2022.1069453

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