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A novel heterozygous HTRA1 mutation in an Asian family with CADASIL‐like disease

BACKGROUND: HTRA1 gene mutations are related to the pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). However, heterozygous HTRA1 mutations at specific sites can also lead to rare autosomal dominant cerebral artery disease (CADASIL...

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Detalles Bibliográficos
Autores principales: Cao, Hua, Liu, Jiahui, Tian, Wen, Ji, Xiaofei, Wang, Qi, Luan, Siyu, Dong, Xiang, Dong, Huijie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8841136/
https://www.ncbi.nlm.nih.gov/pubmed/34951056
http://dx.doi.org/10.1002/jcla.24174