| 1 | ARVDPPK, JUP
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| Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy.
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| Li D, Liu Y, Maruyama M, Zhu W, Chen H, Zhang W, Reuter S, Lin SF, Haneline LS, Field LJ, Chen PS, Shou W.
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| Hum Mol Genet 20(23):4582-96. doi: 10.1093/hmg/ddr392. Epub 2011 Aug 31.
2011
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| 2 | ARVDPPK, JUP
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| Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
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| Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP.
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| J Invest Dermatol 130(6):1543-50. Epub 2010 Feb 4.
2010
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| 3 | 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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| 4 | ARVDPPK
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| Evidence for extensive locus heterogeneity in Naxos disease.
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| Djabali K, Martinez-Mir A, Horev L, Christiano AM, Zlotogorski A.
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| J Invest Dermatol 118(3):557-60. No abstract available. 2002
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| 5 | ARVDPPK, JUP
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| Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin
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| Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P.
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| J Am Coll Cardiol 38(5):1477-84. 2001
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| 6 | ARVDPPK
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| Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
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| Coonar AS, et al.
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| Circulation 97 : 2049-2058. 1998
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| 7 | ARVD5, ARVDPPK
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| Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.
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| Ahmad F, et al.
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| Circulation 98(25):2791-5. 1998
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