Titin truncating variants affect heart function in disease cohorts and the general population

Titin truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are also encountered in ~1% of the general population where they may be silent, perhaps reflecting allelic factors. To better understand TTNtv we integrated TTN allelic series, cardiac imaging and genomic data in hu...

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Detalles Bibliográficos
Autores principales: Schafer, Sebastian, de Marvao, Antonio, Adami, Eleonora, Fiedler, Lorna R, Ng, Benjamin, Khin, Ester, Rackham, Owen J L, van Heesch, Sebastiaan, Pua, Chee J, Kui, Miao, Walsh, Roddy, Tayal, Upasana, Prasad, Sanjay K, Dawes, Timothy J W, Ko, Nicole S J, Sim, David, Chan, Laura L, Chin, Calvin W L, Mazzarotto, Francesco, Barton, Paul J, Kreuchwig, Franziska, de Kleijn, Dominique P V, Totman, Teresa, Biffi, Carlo, Tee, Nicole, Rueckert, Daniel, Schneider, Valentin, Faber, Allison, Regitz-Zagrosek, Vera, Seidman, Jonathan G, Seidman, Christine E, Linke, Wolfgang A, Kovalik, Jean-Paul, O’Regan, Declan Patrick, Ware, James S, Hubner, Norbert, Cook, Stuart A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5201198/
https://www.ncbi.nlm.nih.gov/pubmed/27869827
http://dx.doi.org/10.1038/ng.3719

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