Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia

Background. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiac disease with reduced penetrance and a highly variable expression. Mutations in the gene encoding the plakophilin-2 gene (PKP2) are detected in about 50% of ARVC/D patients. The p.Arg79X mutation in...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: van der Zwaag, P.A., Cox, M.G.P.J., van der Werf, C., Wiesfeld, A.C.P., Jongbloed, J.D.H., Dooijes, D., Bikker, H., Jongbloed, R., Suurmeijer, A.J.H., van den Berg, M.P., Hofstra, R.M.W., Hauer, R.N.W., Wilde, A.A.M., van Tintelen, J.P.
Formato: Artigo
Idioma:Inglês
Publicado: Bohn Stafleu van Loghum 2011
Assuntos:
Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3018603/
https://ncbi.nlm.nih.gov/pubmed/21301620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12471-010-0839-5
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares