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Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
BMC Med Genet. 2007 Oct 26;8:65. doi: 10.1186/1471-2350-8-65.
BMC Med Genet. 2007.
PMID: 17963498
Free PMC article.
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A.
Pilichou K, et al.
Circulation. 2006 Mar 7;113(9):1171-9. doi: 10.1161/CIRCULATIONAHA.105.583674. Epub 2006 Feb 27.
Circulation. 2006.
PMID: 16505173
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