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Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

✍ Scribed by G Millat; P Chevalier; L Restier-Miron; A Da Costa; P Bouvagnet; B Kugener; L Fayol; C Gonzàlez Armengod; B Oddou; V Chanavat; E Froidefond; R Perraudin; R Rousson; C Rodriguez-Lafrasse

Book ID: 110888246
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 475 KB
Volume: 70
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2006.00671.x

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Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a