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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6801452/
https://ncbi.nlm.nih.gov/pubmed/31590245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20194920
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