Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome
We have found a novel nonsense mutation in the C-terminus of HERG in a four-generation Chinese family with long QT syndrome and investigated the molecular mechanism of this mutation in vitro. Six family members, including the proband, were clinically affected. Syncope and ventricular tachycardia of...
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Veröffentlicht in: | Journal of molecular medicine (Berlin, Germany) Germany), 2004-03, Vol.82 (3), p.189-196 |
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Sprache: | eng |
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