Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrates the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy

BACKGROUND: Familial dilated cardiomyopathy is a genetically heterogeneous disease with >30 known genes. TTN truncating variants were recently implicated in a candidate gene study to cause 25% of familial and 18% of sporadic dilated cardiomyopathy (DCM) cases. METHODS AND RESULTS: We used an unbi...

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Autores principales: Norton, Nadine, Li, Duanxiang, Rampersaud, Evadnie, Morales, Ana, Martin, Eden R., Zuchner, Stephan, Guo, Shengru, Gonzalez, Michael, Hedges, Dale J., Robertson, Peggy D., Krumm, Niklas, Nickerson, Deborah A., Hershberger, Ray E.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3815606/
https://ncbi.nlm.nih.gov/pubmed/23418287
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.111.000062
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