Whole Exome Sequencing in a Large Pedigree with DCM Identifies a Novel Mutation in RBM20

BACKGROUND: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous and is associated with mutations in at least 40 different genes. Apart from TTN encoding the giant protein Titin, none of these genes have an expected diagnostic yield of more than 5 % complicating genetic diagnosis. Whol...

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Detalhes bibliográficos
Publicado no:Acta Cardiol
Main Authors: Robyns, Tomas, Willems, Rik, Cleemput, Johan Van, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Breckpot, Jeroen, Devriendt, Koenraad, Corveleyn, Anniek
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7124986/
https://ncbi.nlm.nih.gov/pubmed/31583969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/00015385.2019.1674490
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