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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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| Pubblicato in: | Acta Cardiol |
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| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2019
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| Soggetti: | |
| Accesso online: | 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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