Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin (TTN), as a major human disease gene. Truncating variants of TTN (TTNtv) especially in the A-band region account for 20% of dilated cardiomyopathy (DCM) cases. Much at...

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Publicado no:Sci Rep
Main Authors: Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H., Jongbloed, Jan D. H., Boven, Ludolf G., van den Berg, Maarten P., Pinto, Yigal M., Alastalo, Tero-Pekka, Myllykangas, Samuel, Spaendonck-Zwarts, Karin van, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6412046/
https://ncbi.nlm.nih.gov/pubmed/30858397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-39911-x
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