Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

BACKGROUND AND OBJECTIVES: The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of neurodegenerative disorders generally caused by single nucleotide variants (SNVs) or indels in coding regions or by repeat expansions in coding and noncoding regions of SCA genes. Copy number varia...

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Detalles Bibliográficos
Autores principales: Ghorbani, Fatemeh, de Boer, Eddy N., Benjamins-Stok, Marloes, Verschuuren-Bemelmans, Corien C., Knapper, Jurjen, de Boer-Bergsma, Jelkje, de Vries, Jeroen J., Sikkema-Raddatz, Birgit, Verbeek, Dineke S., Westers, Helga, van Diemen, Cleo C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696507/
http://dx.doi.org/10.1212/NXG.0000000000200050

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