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An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation

Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Ca(v)1.2 have been implicated in arrhythmic syndromes. We screened patients with Brugada syndrome, short QT syndrome, early repolarisation syndrome, and idiopathic ventricular fibrillation to determi...

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Detalles Bibliográficos
Autores principales: Blancard, Malorie, Debbiche, Amal, Kato, Koichi, Cardin, Christelle, Sabrina, Guichard, Gandjbakhch, Estelle, Probst, Vincent, Haissaguerre, Michel, Extramiana, Fabrice, Hocini, Mélèze, Olivier, Geoffroy, Leenhardt, Antoine, Guicheney, Pascale, Rougier, Jean-Sébastien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168548/
https://www.ncbi.nlm.nih.gov/pubmed/30279520
http://dx.doi.org/10.1038/s41598-018-32867-4