Cargando...
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...
Gardado en:
| Publicado en: | Neurol Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wolters Kluwer
2019
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6773431/ https://ncbi.nlm.nih.gov/pubmed/31742228 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000359 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|