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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書誌詳細
出版年:J Am Heart Assoc
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2015
主題:
Original Research
オンライン･アクセス: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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