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
Hauptverfasser: Duarri, Anna, Nibbeling, Esther A. R., Fokkens, Michiel R., Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C., Kremer, Berry P. H., van de Warrenburg, Bart P., Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J., Verbeek, Dineke S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2015
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Research Article
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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