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Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or Ca(V)2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmissi...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Biology Reports
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948357/ https://www.ncbi.nlm.nih.gov/pubmed/20948794 http://dx.doi.org/10.3410/B2-4 |