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注意:仅列出部分参考文献,下载原文获取全部文献信息。Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome
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Molecular aspects of the congenital and acquired long QT Syndrome: Clinical implications
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NATURE (2006)
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism
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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
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Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
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Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome
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