Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
更正:一种与严重发育迟缓、语言障碍和肌无力相关的纯合PPP1R21剪接变异体导致蛋白酶体功能激活。
期刊:Molecular Neurobiology
影响因子:4.3
doi:10.1007/s12035-023-03319-6
Hentschel, Andreas; Meyer, Nancy; Kohlschmidt, Nicolai; Groß, Claudia; Sickmann, Albert; Schara-Schmidt, Ulrike; Förster, Fabian; Töpf, Ana; Christiansen, Jon; Horvath, Rita; Vorgerd, Matthias; Thompson, Rachel; Polavarapu, Kiran; Lochmüller, Hanns; Preusse, Corinna; Hannappel, Luis; Schänzer, Anne; Grüneboom, Anika; Gangfuß, Andrea; Roos, Andreas