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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888117/
https://www.ncbi.nlm.nih.gov/pubmed/31698696
http://dx.doi.org/10.3390/ijms20225522

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888117/
https://www.ncbi.nlm.nih.gov/pubmed/31698696
http://dx.doi.org/10.3390/ijms20225522

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