Allelic complexity in long QT syndrome: A family-case study

Keyphrases

• Long QT Syndrome 100%
• KCNH2 100%
• Family Case 100%
• KCNQ1 57%
• KCNE1 42%
• Genetic Variants 28%
• Pathogenic mutations 28%
• Cause of Disease 14%
• Severe Disease 14%
• Clinical Data 14%
• Functional Impairment 14%
• Arrhythmia 14%
• Standard of Care 14%
• Non-associated 14%
• Genetic Heterogeneity 14%
• Rare Variants 14%
• Novel Variants 14%
• Allelic Heterogeneity 14%
• Congenital Long QT Syndrome 14%
• Clinical Genetic Testing 14%
• Dominant Negative Effect 14%
• Common Variants 14%
• Severe Phenotype 14%
• Whole-cell Patch-clamp 14%
• Heterozygosity 14%
• Compound Heterozygous mutation 14%
• In Silico Analysis 14%
• Complex Genotypes 14%
• Digenic 14%

Biochemistry, Genetics and Molecular Biology

• Long QT Syndrome 100%
• KCNE1 60%
• Genetic Divergence 40%
• Wild Type 20%
• Patch Clamp 20%
• Compound Heterozygosity 20%
• Genetics 20%
• Allele 20%
• Genetic Screening 20%
• Whole Cell Patch Clamp 20%
• Heterozygosity 20%
• Cardiac Dysrhythmia 20%