The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death
新型结蛋白突变体 p.A120D 会损害细丝形成,阻止闰盘定位,并导致心源性猝死
期刊:Circulation-Cardiovascular Genetics
影响因子:
doi:10.1161/CIRCGENETICS.113.000103
Andreas Brodehl, Mareike Dieding, Bärbel Klauke, Eric Dec, Shrestha Madaan, Taosheng Huang, John Gargus, Azra Fatima, Tomo Saric, Hamdin Cakar, Volker Walhorn, Katja Tönsing, Tim Skrzipczyk, Ramona Cebulla, Désirée Gerdes, Uwe Schulz, Jan Gummert, Jesper Hastrup Svendsen, Morten Salling Olesen, Dari