Novel <i>SCN5A</i> p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the <i>SCN5A</i> gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Emanuele Micaglio, Michelle M. Monasky, Nicoletta Resta, Rosanna Bagnulo, Giuseppe Ciconte, Luigi Gianelli, Emanuela T. Locati, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Luigi Anastasia, Sara Benedetti, Chiara Di Resta, Maurizio Ferrari, Carlo Pappone
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI AG 2019-10-01
Serie:International Journal of Molecular Sciences
Soggetti:
brugada syndrome
sudden cardiac death
genetic testing
mutation
<i>scn5a</i>
sodium channel
arrhythmia
channelopathy
family
point-nonsense mutation
Accesso online:https://www.mdpi.com/1422-0067/20/19/4920
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi