| 1 | ARVD9, PKP2
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| Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
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| Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Luisa Mostacciuolo M, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A.
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| Eur J Hum Genet 21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13.
2013
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| 2 | ARVD9, PKP2
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| Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy.
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| Roberts JD, Herkert JC, Rutberg J, Nikkel SM, Wiesfeld AC, Dooijes D, Gow RM, van Tintelen JP, Gollob MH.
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| Clin Genet 83(5):452-6. doi: 10.1111/j.1399-0004.2012.01950.x. Epub 2012 Sep 10.
2013
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| 3 | ARVD9, PKP2
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| Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
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| van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA.
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| Cardiology 123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7.
2012
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| 4 | ARVD9, PKP2
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| A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy.
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| Ostrowska Dahlgren B, Allen M, Lindström AC, Bjerke M, Blomström-Lundqvist C.
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| J Interv Card Electrophysiol 34(1):11-8. doi: 10.1007/s10840-011-9643-4. Epub 2011 Dec 15.
2012
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| 5 | ARVD10, ARVD8, ARVD9, ARVDPPK, DSC2, DSG2, DSP, JUP, PKP
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| Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
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| Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH.
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| J Med Genet 47(11):736-44. Epub 2010 Sep 23.
2010
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| 6 | ARVD9, PKP2
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| Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.
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| Lahtinen AM, Lehtonen A, Kaartinen M, Toivonen L, Swan H, Widén E, Lehtonen E, Lehto VP, Kontula K.
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| Int J Cardiol 126(1):92-100. Epub 2007 May 22.PMID: 17521752 2008
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| 7 | PKP2, ARVD9
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| Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy.
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| Nagaoka I, Matsui K, Ueyama T, Kanemoto M, Wu J, Shimizu A, Matsuzaki M, Horie M.
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| Circ J 70(7):933-5. 2006
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| 8 | ARVD9, PKP2
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| Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
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| Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L.
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| Nat Genet 36(11):1162-4. Epub 2004 Oct 17. 2004
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