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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2007
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados