Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A 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 SCN5A gene are the single most common known genetic unifier, accounting for about a third of cases. Research...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Monasky, Michelle M., Micaglio, Emanuele, Giachino, Daniela, Ciconte, Giuseppe, Giannelli, Luigi, Locati, Emanuela T., Ramondini, Elisa, Cotugno, Roberta, Vicedomini, Gabriele, Borrelli, Valeria, Ghiroldi, Andrea, Anastasia, Luigi, Pappone, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6888117/
https://ncbi.nlm.nih.gov/pubmed/31698696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20225522
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