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Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp

The CACNA1H gene encodes the α1 subunit of the low voltage-activated Ca(v)3.2 T-type calcium channel, an important regulator of neuronal excitability. Alternative mRNA splicing can generate multiple channel variants with distinct biophysical properties and expression patterns. Two major splice varia...

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Detalles Bibliográficos
Autores principales: Souza, Ivana A., Gandini, Maria A., Zamponi, Gerald W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451114/
https://www.ncbi.nlm.nih.gov/pubmed/34544471
http://dx.doi.org/10.1186/s13041-021-00861-z