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Role of Titin Missense Variants in Dilated Cardiomyopathy

BACKGROUND: The titin gene (TTN) encodes the largest human protein, which plays a central role in sarcomere organization and passive myocyte stiffness. TTN truncating mutations cause dilated cardiomyopathy (DCM); however, the role of TTN missense variants in DCM has been difficult to elucidate becau...

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Detalles Bibliográficos
Autores principales: Begay, Rene L., Graw, Sharon, Sinagra, Gianfranco, Merlo, Marco, Slavov, Dobromir, Gowan, Katherine, Jones, Kenneth L., Barbati, Giulia, Spezzacatene, Anita, Brun, Francesca, Di Lenarda, Andrea, Smith, John E., Granzier, Henk L., Mestroni, Luisa, Taylor, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845231/
https://www.ncbi.nlm.nih.gov/pubmed/26567375
http://dx.doi.org/10.1161/JAHA.115.002645