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...

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Vydáno v:Neurol Genet
Hlavní autoři: Zagnoli-Vieira, Guido, Bruni, Francesco, Thompson, Kyle, He, Langping, Walker, Sarah, de Brouwer, Arjan P.M., Taylor, Robert, Niyazov, Dmitriy, Caldecott, Keith W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6089694/
https://ncbi.nlm.nih.gov/pubmed/30109272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000262
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