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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes

BACKGROUND: We report an inherited cardiac arrhythmia syndrome consisting of Brugada and Early Repolarization Syndrome associated with variants in SCN9A, PXDNL, and FKBP1B. The proband inherited the 3 mutations and exhibited palpitations and arrhythmia-mediated syncope, whereas the parents and siste...

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Detalles Bibliográficos
Autores principales: Barajas-Martinez, Hector, Smith, Maya, Hu, Dan, Goodrow, Robert J., Puleo, Colleen, Hasdemir, Can, Antzelevitch, Charles, Pfeiffer, Ryan, Treat, Jacqueline A., Cordeiro, Jonathan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7481990/
https://www.ncbi.nlm.nih.gov/pubmed/32952569
http://dx.doi.org/10.1155/2020/8842398