| 1 | CMD1P, PLN
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| Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.
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| Groeneweg JA, van der Zwaag PA, Olde Nordkamp LR, Bikker H, Jongbloed JD, Jongbloed R, Wiesfeld AC, Cox MG, van der Heijden JF, Atsma DE, de Boer K, Doevendans PA, Vink A, van Veen TA, Dooijes D, van den Berg MP, Wilde AA, van Tintelen JP, Hauer RN.
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| Am J Cardiol 112(8):1197-206. doi: 10.1016/j.amjcard.2013.06.017. Epub 2013 Jul 19.
2013
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| 2 | CMD1P, PLN
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| Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
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| van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP.
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| Eur J Heart Fail 14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20.
2012
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| 3 | PLN, CMD1P
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| A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids.
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| Haghighi K, Chen G, Sato Y, Fan GC, He S, Kolokathis F, Pater L, Paraskevaidis I, Jones WK, Dorn GW 2nd, Kremastinos DT, Kranias EG.
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| Hum Mutat 29(5):640-7. 2008
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| 4 | PLN, CMD1P
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| A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
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| Haghighi K, Kolokathis F, Gramolini AO, Waggoner JR, Pater L, Lynch RA, Fan GC, Tsiapras D, Parekh RR, Dorn GW 2nd, MacLennan DH, Kremastinos DT, Kranias EG.
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| Proc Natl Acad Sci U S A 103(5):1388-93. Epub 2006 Jan 23. 2006
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| 5 | CMD1P, CMD1R, PLN
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| Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
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| Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, Kranias EG, MacLennan DH, Seidman JG, Seidman CE.
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| Science 299(5611):1410-3. 2003
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