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Utilizing the Genome Aggregation Database, Computational Pathogenicity Prediction Tools, and Patch Clamp Heterologous Expression Studies to Demote Previously Published Type 1 Long QT Syndrome Mutations from Pathogenic to Benign
BACKGROUND: Mutations in the KCNQ1-encoded Kv7.1 potassium channel cause type 1 long QT syndrome (LQT1). It has been suggested that ~10-20% of rare LQTS case-derived variants in the literature may have been published erroneously as LQT1-causative mutations and may be “false positives.” OBJECTIVE: To...
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| Gepubliceerd in: | Heart Rhythm |
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| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6383800/ https://ncbi.nlm.nih.gov/pubmed/29197658 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2017.11.032 |
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