| 1 | KCNE1, LQT5
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| Mechanisms of disease pathogenesis in long QT syndrome type 5.
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| Harmer SC, Wilson AJ, Aldridge R, Tinker A.
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| Am J Physiol Cell Physiol 298(2):C263-73. Epub 2009 Nov 11.
2010
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| 2 | KCNE1, LQT5
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| The role of abnormal trafficking of KCNE1 in long QT syndrome 5.
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| Harmer SC, Tinker A.
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| Biochem Soc Trans 35(Pt 5):1074-6. Review.PMID: 17956282 2007
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| 3 | KCNQ1, LQT1, KCNE1, KCNE2, LQT5, LQT6, SCN5A, LQT3, KCNH2, LQT2
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| Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
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| Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzalez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.
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| Clin Genet 70(3):214-27. 2006
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| 4 | KCNE1, KCNQ1, LQT1, LQT5
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| Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome.
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| Thomas D, Wimmer AB, Karle CA, Licka M, Alter M, Khalil M, Ulmer HE, Kathofer S, Kiehn J, Katus HA, Schoels W, Koenen M, Zehelein J.
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| Cardiovasc Res 67(3):487-97. 2005
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| 5 | KCNE1, LQT5
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| Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family.
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| Ma L, Lin C, Teng S, Chai Y, Bahring R, Vardanyan V, Li L, Pongs O, Hui R.
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| Cardiovasc Res 59(3):612-9. 2003
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| 6 | KCNE2, LQT5
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| MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
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| Abbott GW, et al.
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| Cell 97(2):175-87. 1999
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| 7 | KCNE2, LQT5
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| Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
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| Bianchi L, et al.
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| Hum Mol Genet 8(8):1499-507. 1999
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