Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees

BACKGROUND AND OBJECTIVES: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease caused by homozygous or compound heterozygous variations in the high-temperature requirement A serine peptidase 1 (HTRA1) gene...

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Detalles Bibliográficos
Autores principales: Yao, Tingyan, Zhu, Junge, Wu, Xiao, Li, Xuying, Fu, Yongjuan, Wang, Yuan, Wang, Zhanjun, Xu, Fanci, Lai, Hong, He, Aini, Teng, Lianghong, Wang, Chaodong, Song, Haiqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747143/
https://www.ncbi.nlm.nih.gov/pubmed/36524103
http://dx.doi.org/10.1212/NXG.0000000000200044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747143/
https://www.ncbi.nlm.nih.gov/pubmed/36524103
http://dx.doi.org/10.1212/NXG.0000000000200044

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