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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
OBJECTIVE: To address the relationship between mutations in the DNA strand break repair protein tyrosyl DNA phosphodiesterase 2 (TDP2) and spinocerebellar ataxia autosomal recessive 23 (SCAR23) and to characterize the cellular phenotype of primary fibroblasts from this disease. METHODS: We have used...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089694/ https://www.ncbi.nlm.nih.gov/pubmed/30109272 http://dx.doi.org/10.1212/NXG.0000000000000262 |