Chargement en cours...
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...
Enregistré dans:
| Publié dans: | Neurol Genet |
|---|---|
| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wolters Kluwer
2018
|
| Sujets: | |
| Accès en ligne: | 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 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|