KCNC3: Phenotype, mutations, channel biophysics – a study of 260 familial ataxia patients

We recently identified KCNC3, encoding the Kv3.3 voltage-gated potassium channel, as the gene mutated in SCA13. One g.10684G>A (p.Arg420His) mutation caused late-onset ataxia resulting in a non-functional channel subunit with dominant-negative properties. A French early-onset pedigree with mild m...

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主要な著者: Figueroa, Karla P., Minassian, Natali A., Stevanin, Giovanni, Waters, Michael, Garibyan, Vartan, Forlani, Sylvie, Strzelczyk, Adam, Bűrk, Katrin, Brice, Alexis, Dűrr, Alexandra, Papazian, Diane M., Pulst, Stefan-M
フォーマット: Artigo
言語:Inglês
出版事項: 2010
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2814913/
https://ncbi.nlm.nih.gov/pubmed/19953606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21165
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