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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| 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 |