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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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Veröffentlicht in:J Am Heart Assoc
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2015
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Online Zugang: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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