Why the study?
What is the genetic mutation responsible for Long QT syndrome in a specific affected family?
Population
A family with Long QT syndrome (LQT) and 100 normal, unrelated individuals
Comparison
DNA sequence analysis, restriction enzyme… vs Unaffected family members and 100 normal…
Design
Other
Authors
Loading...
May guide family-specific LQTS screening; extends HERG mutation spectrum while leaving broader validation open.
What is the genetic mutation responsible for Long QT syndrome in a specific affected family?
A novel missense mutation (Ile593Arg) in the HERG potassium channel pore region was identified as the cause of familial Long QT syndrome.
Benson et al. (1996) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: