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
Hauptverfasser: SIYONG TENG, LIJUAN MA, RUTAI HUI, YINGXUE DONG, CHUNXIA LIN, JUE YE, BÄHRING, Robert, VARDANYAN, Vitya, YANZONG YANG, ZHIHU LIN, OLAF PONGS
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Sprache:eng
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