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Mutations in NOTCH3 Gene may Promote the Clinical Presentation of Spinocerebellar Ataxia Type 37 Caused by Mutations in DAB1 Gene

Background: Autosomal dominant spinocerebellar ataxia type 37 (SCA37) and Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) result from DAB1 and NOTCH3 gene mutations, respectively. Methods: In addition to conventional diagnostic methods, next-genera...

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Detalles Bibliográficos
Autores principales: Wang, Zhao-Wei, Wang, Li-Ping, Du, Ye, Liu, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243652/
https://www.ncbi.nlm.nih.gov/pubmed/34222332
http://dx.doi.org/10.3389/fmolb.2021.668312