Abstract 12802: Intron-Mediated Enhancement of Titin (TTN) Regulates Sarcomere Formation and Function

Yuri Kim,Seongwon Kim,Meraj Neyazi,Manuel Schmid,Justin H. Letendre,Jourdan F. Ewoldt,Feng Xiao,Paige Cloonan,Arun K. Sharma,Lauren K. Wasson,Christopher N. Toepfer,Angela Tai,Joshua M. Gorham,Gavin Y. Oudit,William T. Pu,Diane E. Dickel, Christopher S. Chen,Christine E. Seidman,Jonathan G. Seidman

Circulation（2021）

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摘要

Background: Heterozygous truncating variants in the sarcomere protein titin (TTN) are the most common genetic cause of heart failure, a major cause of morbidity and mortality. This causality indica...

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