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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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 |
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