Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Common genetic variants in structural proteins contribute to risk of atrial fibrillation (AF). Here, using whole-exome sequencing, the authors identify rare truncating variants in TTN that associate with familial and early-onset AF and show defects in cardiac sarcomere assembly in ttn.2-mutant zebra...

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Autores principales: Gustav Ahlberg, Lena Refsgaard, Pia R. Lundegaard, Laura Andreasen, Mattis F. Ranthe, Nora Linscheid, Jonas B. Nielsen, Mads Melbye, Stig Haunsø, Ahmad Sajadieh, Lu Camp, Søren-Peter Olesen, Simon Rasmussen, Alicia Lundby, Patrick T. Ellinor, Anders G. Holst, Jesper H. Svendsen, Morten S. Olesen
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
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Science
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Acceso en línea:https://doaj.org/article/32b75a989a0d494f99383ba50d107a85
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