Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder

Analyzing a patient with progressive and severe cardiac conduction disorder combined with idiopathic ventricular fibrillation (IVF), we identified a splice site mutation in the sodium channel gene SCN5A. Due to the severe phenotype, we performed whole-exome sequencing (WES) and identified an additio...

Descripción completa

Detalles Bibliográficos
Autores principales: Friedrich, Corinna, Rinné, Susanne, Zumhagen, Sven, Kiper, Aytug K, Silbernagel, Nicole, Netter, Michael F, Stallmeyer, Birgit, Schulze-Bahr, Eric, Decher, Niels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119356/
https://www.ncbi.nlm.nih.gov/pubmed/24972929
http://dx.doi.org/10.15252/emmm.201303783

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119356/
https://www.ncbi.nlm.nih.gov/pubmed/24972929
http://dx.doi.org/10.15252/emmm.201303783

Ejemplares similares