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A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome

✍ Scribed by Liu, Li; Hayashi, Kenshi; Kaneda, Tomoya; Ino, Hidekazu; Fujino, Noboru; Uchiyama, Katsuharu; Konno, Tetsuo; Tsuda, Toyonobu; Kawashiri, Masa-aki; Ueda, Kosei; Higashikata, Toshinori; Shuai, Wen; Kupershmidt, Sabina; Higashida, Haruhiro; Yamagishi, Masakazu

Book ID: 123537410
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 751 KB
Volume: 10
Category: Article
ISSN: 1547-5271
DOI: 10.1016/j.hrthm.2012.09.053

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Long QT (LQT) syndrome is a potentially life-threatening disorder, characterized by a distinct cardiac arrhythmia known as torsades de pointes. Mutations within a number of genes linked to the familial form, including that coding for a cardiac potassium channel called KCNH2 (HERG), have been describ