Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript

Medicine & Life Sciences

• triadin 100%
• Long QT Syndrome 72%
• Primates 52%
• Exons 46%
• Genome 38%
• Phenotype 33%
• Heart 9%
• Frameshift Mutation 8%
• Induced Pluripotent Stem Cells 7%
• Base Pairing 7%
• Heart Arrest 6%
• Introns 6%
• Cardiac Myocytes 6%
• Inborn Genetic Diseases 6%
• Reverse Transcription 6%
• Cardiac Arrhythmias 5%
• Protein Isoforms 5%
• RNA 4%
• Western Blotting 4%
• Mothers 4%
• Polymerase Chain Reaction 4%
• Proteins 2%