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Ca(V)1.2 channelopathic mutations evoke diverse pathophysiological mechanisms
The first pathogenic mutation in Ca(V)1.2 was identified in 2004 and was shown to cause a severe multisystem disorder known as Timothy syndrome (TS). The mutation was localized to the distal S6 region of the channel, a region known to play a major role in channel activation. TS patients suffer from...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Rockefeller University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524202/ https://www.ncbi.nlm.nih.gov/pubmed/36167061 http://dx.doi.org/10.1085/jgp.202213209 |