The L348P point mutation in cardiac myosin binding protein-C alters transient responses to stretch, slows cardiac relaxation, and is embryonic lethal in homozygous CRISPR gene-edited mice
心肌肌球蛋白结合蛋白C中的L348P点突变会改变对牵张的瞬时反应,减缓心脏舒张,并且在纯合CRISPR基因编辑小鼠中导致胚胎致死。
期刊:Journal of Molecular and Cellular Cardiology
影响因子:4.7
doi:10.1016/j.yjmcc.2025.04.007
Sadler, Rachel L; Greenman, Angela C; Methawasin, Mei; Fan, Julie; Harris, Samantha P