Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.

di Barletta, Marina Raffaele; Viatchenko-Karpinski, Serge; Nori, Alessandra; Memmi, Mirella; Terentyev, Dmitry; Turcato, Federica; Valle, Giorgia; Rizzi, Nicoletta; Napolitano, Carlo; Gyorke, Sandor; Volpe, Pompeo; Priori, Silvia G

di Barletta, Marina Raffaele; Viatchenko-Karpinski, Serge; Nori, Alessandra; Memmi, Mirella; Terentyev, Dmitry; Turcato, Federica; Valle, Giorgia; Rizzi, Nicoletta; Napolitano, Carlo; Gyorke, Sandor; Volpe, Pompeo; Priori, Silvia G.

Affiliation

di Barletta MR; Molecular Cardiology, IRCCS Fondazione Maugeri, University of Pavia, Via Ferrata 8 27100, Pavia, Italy.

Circulation ; 114(10): 1012-9, 2006 Sep 05.

Article in En | MEDLINE | ID: mdl-16908766

Subject(s)

Calsequestrin/genetics; Syncope/genetics; Tachycardia, Ventricular/genetics; Amino Acid Substitution; Animals; Child; Female; Gene Transfer Techniques; Genetic Carrier Screening; Humans; Male; Muscle Cells/physiology; Mutagenesis, Site-Directed; Mutation; Pedigree; Point Mutation; Rats; Tachycardia, Ventricular/physiopathology; Transfection

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Collection: 01-internacional Database: MEDLINE Main subject: Syncope / Calsequestrin / Tachycardia, Ventricular Type of study: Risk_factors_studies Limits: Animals / Child / Female / Humans / Male Language: En Journal: Circulation Year: 2006 Type: Article Affiliation country: Italy

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