Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with unknown mechanisms and a broad phenotypic spectrum. It is caused by pathogenic variants in the NOTCH3 gene. The symptoms of the disease mainly include recurre...

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Detalles Bibliográficos
Autores principales: Bostanova, Fatima, Tsygankova, Polina, Nagornov, Ilya, Dadali, Elena, Bessonova, Lyudmila, Kulesh, Aleksey, Drobakha, Viktor, Danchenko, Irina, Kanivets, Ilya, Zakharova, Ekaterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531103/
https://www.ncbi.nlm.nih.gov/pubmed/37761855
http://dx.doi.org/10.3390/genes14091715

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531103/
https://www.ncbi.nlm.nih.gov/pubmed/37761855
http://dx.doi.org/10.3390/genes14091715

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