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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...
Gorde:
| Egile Nagusiak: | , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BlackWell Publishing Ltd
2014
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| Gaiak: | |
| Sarrera elektronikoa: | 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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