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pubmed-article:12062363pubmed:abstractTextIn a 32-year-old woman with marked QT prolongation (QTc=0.61 s) and repeated episodes of syncope, we identified a single pertinent base substitution (G to A at 1909) in HERG by genetic analysis. This novel missense mutation is predicted to cause an amino acid substitution of lysine for glutamic acid at position 637 (E637K) in the pore-S6 loop. Therefore, we investigated the role of a glutamic acid at the vicinity of the pore in HERG channels by mutating it to a lysine.lld:pubmed
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pubmed-article:12062363pubmed:articleTitleCharacterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.lld:pubmed
pubmed-article:12062363pubmed:affiliationMolecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University 13-1, Takara-machi, Ishikawa 920-8640, Japan. kenshi@im2.m.kanazawa-u.ac.jplld:pubmed
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