Novel cacna1a variant p.cys256phe disrupts disulfide bonds and causes spinocerebellar ataxia
Autor: | Kathrin Reetz, Yuliia V. Nikonishyna, Nadine J. Ortner, Jessica Hoffmann, Jörg Striessnig, Saskia Biskup, Jörg B. Schulz, Teresa Kaserer, Maike F. Dohrn, Manuel Dafotakis |
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Jazyk: | angličtina |
Rok vydání: | 2022 |
Předmět: |
Patch-Clamp Techniques
Ataxia Voltage-dependent calcium channel Chemistry Mutant Mutation Missense Transfection Middle Aged medicine.disease Phenotype Molecular biology Neurology medicine Spinocerebellar ataxia Humans Spinocerebellar Ataxias Missense mutation Female Calcium Channels Disulfides Neurology (clinical) medicine.symptom Trinucleotide repeat expansion |
Zdroj: | Movement disorders 37(2), 401-404 (2022). doi:10.1002/mds.28835 |
Popis: | Movement disorders 37(2), 401-404 (2022). doi:10.1002/mds.28835 Published by Wiley, New York, NY |
Databáze: | OpenAIRE |
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