Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the SCN5A gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of the cases, with th...

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Detalles Bibliográficos
Autores principales: Micaglio, Emanuele, Monasky, Michelle M., Resta, Nicoletta, Bagnulo, Rosanna, Ciconte, Giuseppe, Gianelli, Luigi, Locati, Emanuela T., Vicedomini, Gabriele, Borrelli, Valeria, Ghiroldi, Andrea, Anastasia, Luigi, Benedetti, Sara, Di Resta, Chiara, Ferrari, Maurizio, 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/PMC6801452/
https://www.ncbi.nlm.nih.gov/pubmed/31590245
http://dx.doi.org/10.3390/ijms20194920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801452/
https://www.ncbi.nlm.nih.gov/pubmed/31590245
http://dx.doi.org/10.3390/ijms20194920

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