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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
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 |
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