Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

BACKGROUND: Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement. We screened 54 ARVC probands for mutations in de...

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主要な著者: Beffagna, Giorgia, De Bortoli, Marzia, Nava, Andrea, Salamon, Michela, Lorenzon, Alessandra, Zaccolo, Manuela, Mancuso, Luisa, Sigalotti, Luca, Bauce, Barbara, Occhi, Gianluca, Basso, Cristina, Lanfranchi, Gerolamo, Towbin, Jeffrey A, Thiene, Gaetano, Danieli, Gian Antonio, Rampazzo, Alessandra
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2007
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2190757/
https://ncbi.nlm.nih.gov/pubmed/17963498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-65
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