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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Publicado en:J Am Heart Assoc
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: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2015
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Original Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4845231/
https://ncbi.nlm.nih.gov/pubmed/26567375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/JAHA.115.002645
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