Article
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.
Nature - 6 Feb 2003
Mohler Peter J, Schott Jean-Jacques, Gramolini Anthony O, Dilly Keith W, Guatimosim Silvia, duBell William H, Song Long-Sheng, Haurogné Karine, Kyndt Florence, Ali Mervat E, Rogers Terry B, Lederer W J, Escande Denis, Le Marec Herve, Bennett Vann
Abstract excerpt
Mutations in ion channels involved in the generation and termination of action potentials constitute a family of molecular defects that underlie fatal cardiac arrhythmias in inherited long-QT syndrome. We report here that a loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia in...
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