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Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia
Authors:Yuliia V. Nikonishyna MSc  Nadine J. Ortner PhD  Teresa Kaserer PhD  Jessica Hoffmann PhD  Saskia Biskup MD  PhD  Manuel Dafotakis MD  Kathrin Reetz  Jörg B. Schulz MD  Jörg Striessnig MD  Maike F. Dohrn MD
Affiliation:1. Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck, Austria;2. Department of Pharmaceutical Chemistry, Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck, Austria;3. Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen, Tübingen, Germany;4. Department of Neurology, Medical Faculty of the RWTH Aachen University, Aachen, Germany;5. Department of Neurology, Medical Faculty of the RWTH Aachen University, Aachen, Germany

JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany

Abstract:
Keywords:ataxia  autosomal dominant  missense mutation  calcium channels
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