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...

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Autors principals: Friedrich, Corinna, Rinné, Susanne, Zumhagen, Sven, Kiper, Aytug K, Silbernagel, Nicole, Netter, Michael F, Stallmeyer, Birgit, Schulze-Bahr, Eric, Decher, Niels
Format: Artigo
Idioma:Inglês
Publicat: BlackWell Publishing Ltd 2014
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4119356/
https://ncbi.nlm.nih.gov/pubmed/24972929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201303783
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