Recessive Arrhythmogenic Right Ventricular Dysplasia Due to Novel Cryptic Splice Mutation in PKP2

Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic disorder resulting in fibrofatty replacement of right ventricular myocytes and consequent ventricular arrhythmias. Heterozygous mutations in PKP2 encoding plakophilin-2 have previously been reported to cause dominant ARVD with reduced pe...

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Autores principales: Awad, Mark M., Dalal, Darshan, Tichnell, Crystal, James, Cynthia, Tucker, April, Abraham, Theodore, Spevak, Philip J., Calkins, Hugh, Judge, Daniel P.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2006
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2799897/
https://ncbi.nlm.nih.gov/pubmed/17041889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.9461
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