Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs(*)221) in a single copy of the SCN5A gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular arrhythmia successfully treated with DC-shock an...

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Bibliografiske detaljer
Udgivet i:Front Genet
Main Authors: Micaglio, Emanuele, Monasky, Michelle M., Ciconte, Giuseppe, Vicedomini, Gabriele, Conti, Manuel, Mecarocci, Valerio, Giannelli, Luigi, Giordano, Federica, Pollina, Alberto, Saviano, Massimo, Pozzi, Paolo R., Di Resta, Chiara, Benedetti, Sara, Ferrari, Maurizio, Santinelli, Vincenzo, Pappone, Carlo
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019
Fag:
Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565861/
https://ncbi.nlm.nih.gov/pubmed/31231430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00547
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