A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation

BACKGROUND: Autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebrovascular disease closely related to the NOTCH3 gene. More than 200 mutations in this gene have been reported to be associated with this disease. METHODS: The NOTCH3 gene from CADASIL p...

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Detalles Bibliográficos
Autores principales: Liu, Jiahui, Zhang, Qiaoyu, Wang, Qi, Luan, Siyu, Dong, Xiang, Cao, Hua, Tao, Dingbo, Dong, Huijie, Ji, Xiaofei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605158/
https://www.ncbi.nlm.nih.gov/pubmed/34558736
http://dx.doi.org/10.1002/jcla.24027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605158/
https://www.ncbi.nlm.nih.gov/pubmed/34558736
http://dx.doi.org/10.1002/jcla.24027

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