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Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases
Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated potassium channel KCNC3. To identify novel pathogenic SCA13 mutations in KCNC3 and to gain insights into the disease prevalence in the Net...
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| Veröffentlicht in: | PLoS One |
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| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Public Library of Science
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4355074/ https://ncbi.nlm.nih.gov/pubmed/25756792 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116599 |
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