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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Détails bibliographiques
Publié dans:Acta Cardiol
Auteurs principaux: Robyns, Tomas, Willems, Rik, Cleemput, Johan Van, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Breckpot, Jeroen, Devriendt, Koenraad, Corveleyn, Anniek
Format: Artigo
Langue:Inglês
Publié: 2019
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Article
Accès en ligne: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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