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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7460631/
https://ncbi.nlm.nih.gov/pubmed/32824506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21165902
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