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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Enregistré dans:
Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
Sujets:
Case Report
Accès en ligne: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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