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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. Heuser A, et al. Among authors: basson ct. Am J Hum Genet. 2006 Dec;79(6):1081-8. doi: 10.1086/509044. Epub 2006 Oct 3. Am J Hum Genet. 2006. PMID: 17186466 Free PMC article.
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. Gerull B, et al. Among authors: basson ct. Nat Genet. 2004 Nov;36(11):1162-4. doi: 10.1038/ng1461. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489853
95 results