Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome

Brugada syndrome (BrS) is diagnosed by the presence of an elevated ST-segment and can result in sudden cardiac death. The most commonly found mutated gene is SCN5A, which some argue is the only gene that has been definitively confirmed to cause BrS, while the potential causative effect of other gene...

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Detalles Bibliográficos
Autores principales: Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Borrelli, Valeria, Giannelli, Luigi, Vicedomini, Gabriele, Ghiroldi, Andrea, Anastasia, Luigi, Locati, Emanuela T., Benedetti, Sara, Di Resta, Chiara, Casari, Giorgio, Pappone, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460631/
https://www.ncbi.nlm.nih.gov/pubmed/32824506
http://dx.doi.org/10.3390/ijms21165902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460631/
https://www.ncbi.nlm.nih.gov/pubmed/32824506
http://dx.doi.org/10.3390/ijms21165902

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