Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree with Familial Dilated Cardiomyopathy

BACKGROUND: Whole exome sequencing (WES) is a powerful technique for Mendelian disease gene discovery. However, variant prioritization remains a challenge. We applied WES to identify the causal variant in a large family with familial dilated cardiomyopathy (DMC) of unknown etiology. METHODS AND RESU...

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Detalhes bibliográficos
Main Authors: Wells, Quinn S., Becker, Jason R., Su, Yan R., Mosley, Jonathan D., Weeke, Peter, D'Aoust, Laura, Ausborn, Natalie L., Ramirez, Andrea H., Pfotenhauer, Jean P., Naftilan, Allen J., Markham, Larry, Exil, Vernat, Roden, Dan M., Hong, Charles C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3895490/
https://ncbi.nlm.nih.gov/pubmed/23861363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.113.000011
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