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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022.
J Am Coll Cardiol. 2009.
PMID: 19926015
Free PMC article.
OBJECTIVES: This study was undertaken to determine the spectrum and prevalence of mutations in the RYR2-encoded cardiac ryanodine receptor in cases with exertional syncope and normal corrected QT interval (QTc). BACKGROUND: Mutations in RYR2 cause type 1 catecholaminerg …
OBJECTIVES: This study was undertaken to determine the spectrum and prevalence of mutations in the RYR2-encoded cardiac ryanodine receptor i …
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
Tester DJ, Kopplin LJ, Will ML, Ackerman MJ.
Tester DJ, et al.
Heart Rhythm. 2005 Oct;2(10):1099-105. doi: 10.1016/j.hrthm.2005.07.012.
Heart Rhythm. 2005.
PMID: 16188589
BACKGROUND: Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel cause type 1 catecholaminergic polymorphic ventricular tachycardia (CPVT1). ...Previously, comprehensive mutational analysis of the five LQTS-associated …
BACKGROUND: Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel cause type 1 catecholaminergic …
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