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Keywords: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
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Journal Articles

Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

Subject Area:
Cardiovascular System
Jasper J. van der Smagt, Paul A. van der Zwaag, J. Peter van Tintelen, Moniek G.P.J. Cox, Arthur A.M. Wilde, Irene M. van Langen, Amber Ummels, F.A.M. Hennekam, Dennis Dooijes, Frans Gerbens, Hennie Bikker, Richard N.W. Hauer, Pieter A. Doevendans
Journal: Cardiology
Cardiology (2012) 123 (3): 181–189.
https://doi.org/10.1159/000342717
Published Online: 07 November 2012
... shorter than the wild-type protein (fig. 3 ). Since the stop codon occurs in the 3′ untranslated region, the abnormal protein cannot be subjected to NMD. Arrhythmia Cardiomyopathy Genetics Desmosome Arrhythmogenic right ventricular dysplasia/cardiomyopathy Arrhythmogenic right...
View article titled, Clinical and Genetic Characterization of Patients with <span class="search-highlight">Arrhythmogenic</span> <span class="search-highlight">Right</span> <span class="search-highlight">Ventricular</span> <span class="search-highlight">Dysplasia</span>&#x2F;<span class="search-highlight">Cardiomyopathy</span> Caused by a Plakophilin-2 Splice Mutation
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