Allelic Complexity in Long QT Syndrome: A Family-Case Study.
International Journal Of Molecular Sciences
Zullo, Alberto A; Frisso, Giulia G; Detta, Nicola N; Sarubbi, Berardo B; Romeo, Emanuele E; Cordella, Angela A; Vanoye, Carlos G CG; Calabrò, Raffaele R; George, Alfred L AL; Salvatore, Francesco F
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI
Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.