Article
Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc - 1 Jul 2005
Shushi Liat, Kerem Batsheva, Goldmit Maya, Peretz Asher, Attali Bernard, Medina Aron, Towbin Jeffrey A, Kurokawa Junko, Kass Robert S, Benhorin Jesaia
Abstract excerpt
OBJECTIVES: To describe the clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) that has been identified in a single large Jewish family with Long QT syndrome (LQTS). BACKGROUND: Many previously reported HERG mutations causing LQTS are located either in the C-terminus, or in the pore region. Relatively fewer clinical data are available on N-terminus (PAS-domain)...
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