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...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2019-11-01
Edice:International Journal of Molecular Sciences
Témata:
brugada syndrome
sudden cardiac death
genetic testing
arrhythmia
<i>scn5a</i>
sodium channel
channelopathy
variant
mutation
humans
family
nonsense mutation
premature stop codon
On-line přístup:https://www.mdpi.com/1422-0067/20/22/5522
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