Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

Background: Homozygous and compound heterozygous mutations in HTRA1 cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recently, heterozygous pathogenic variants in HTRA1 were described in patients with autosomal dominant cerebral small vesse...

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Detalles Bibliográficos
Autores principales: Chen, Mei-Jiao, Zhang, Yi, Luo, Wen-Jiao, Dong, Hai-Lin, Wei, Qiao, Zhang, Juan, Ruan, Qi-Qi, Ni, Wang, Li, Hong-Fu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399615/
https://www.ncbi.nlm.nih.gov/pubmed/36035189
http://dx.doi.org/10.3389/fgene.2022.909131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399615/
https://www.ncbi.nlm.nih.gov/pubmed/36035189
http://dx.doi.org/10.3389/fgene.2022.909131

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