Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

OBJECTIVE: To investigate the pathogenicity of a novel homozygous BRAT1 variant in 2 siblings with nonprogressive cerebellar ataxia (NPCA) through functional studies on primary and immortalized patient cell lines. METHODS: BRAT1 protein levels and ataxia-telangiectasia mutated (ATM) kinase activity...

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Detalles Bibliográficos
Autores principales: Mahjoub, Areej, Cihlarova, Zuzana, Tétreault, Martine, MacNeil, Lauren, Sondheimer, Neal, Caldecott, Keith W., Hanzlikova, Hana, Yoon, Grace
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773431/
https://www.ncbi.nlm.nih.gov/pubmed/31742228
http://dx.doi.org/10.1212/NXG.0000000000000359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773431/
https://www.ncbi.nlm.nih.gov/pubmed/31742228
http://dx.doi.org/10.1212/NXG.0000000000000359

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