Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling

Heterozygous missense variants of the cardiac ryanodine receptor gene (RYR2) cause catecholaminergic polymorphic ventricular tachycardia (CPVT). These missense variants of RYR2 result in a gain of function of the ryanodine receptors, characterized by increased sensitivity to activation by calcium th...

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Detalles Bibliográficos
Autores principales: Hopton, Claire, Tijsen, Anke J., Maizels, Leonid, Arbel, Gil, Gepstein, Amira, Bates, Nicola, Brown, Benjamin, Huber, Irit, Kimber, Susan J., Newman, William G., Venetucci, Luigi, Gepstein, Lior
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017975/
https://www.ncbi.nlm.nih.gov/pubmed/35439358
http://dx.doi.org/10.14814/phy2.15265

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