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De novo CACAN1D Ca(2+) channelopathies: clinical phenotypes and molecular mechanism
The identification of rare disease-causing variants in humans by large-scale next-generation sequencing (NGS) studies has also provided us with new insights into the pathophysiological role of de novo missense variants in the CACNA1D gene that encodes the pore-forming α1-subunit of voltage-gated Cav...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351864/ https://www.ncbi.nlm.nih.gov/pubmed/32583268 http://dx.doi.org/10.1007/s00424-020-02418-w |