Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em>SCN5A</em> Gene

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i>SCN5A</i> gene are the single most common known genetic unifier, accounting for about a third...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Principais autores: Michelle M. Monasky, Emanuele Micaglio, Daniela Giachino, Giuseppe Ciconte, Luigi Giannelli, Emanuela T. Locati, Elisa Ramondini, Roberta Cotugno, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Luigi Anastasia, Carlo Pappone
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2019-11-01
coleção:International Journal of Molecular Sciences
Assuntos:
brugada syndrome
sudden cardiac death
genetic testing
arrhythmia
<i>scn5a</i>
sodium channel
channelopathy
variant
mutation
humans
family
nonsense mutation
premature stop codon
Acesso em linha:https://www.mdpi.com/1422-0067/20/22/5522
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados