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...

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Detalles Bibliográficos
Autores principales: Bamgboye, Moradeke A., Herold, Kevin G., Vieira, Daiana C.O., Traficante, Maria K., Rogers, Philippa J., Ben-Johny, Manu, Dick, Ivy E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2022
Materias:
Article
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

Internet

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

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