Truncations of Titin Causing Dilated Cardiomyopathy

BACKGROUND: Dilated cardiomyopathy and hypertrophic cardiomyopathy arise from mutations in many genes. TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for cardiomyopathy mutations because of its enormous size. METHODS: We analyzed TTN in 312 subjects with dilated...

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Main Authors: Herman, Daniel S., Lam, Lien, Taylor, Matthew R.G., Wang, Libin, Teekakirikul, Polakit, Christodoulou, Danos, Conner, Lauren, DePalma, Steven R., McDonough, Barbara, Sparks, Elizabeth, Teodorescu, Debbie Lin, Cirino, Allison L., Banner, Nicholas R., Pennell, Dudley J., Graw, Sharon, Merlo, Marco, Di Lenarda, Andrea, Sinagra, Gianfranco, Bos, J. Martijn, Ackerman, Michael J., Mitchell, Richard N., Murry, Charles E., Lakdawala, Neal K., Ho, Carolyn Y., Barton, Paul J.R., Cook, Stuart A., Mestroni, Luisa, Seidman, J.G., Seidman, Christine E.
Format: Artigo
Language:Inglês
Published: 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3660031/
https://ncbi.nlm.nih.gov/pubmed/22335739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1110186
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