Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Neurol Genet |
|---|---|
| Prif Awduron: | , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Wolters Kluwer
2018
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| Pynciau: | |
| Mynediad Ar-lein: | 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 |
| Tagiau: |
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