
p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation
Keywords: سیکلوهایسیمید; SMA; Spinal Muscular Atrophy; SMN1; survival of motor neuron 1; NMD; nonsense mediated mRNA decay; PTCs; premature translation termination codons; UPF1; up-frameshift protein1; UTR; untranslated region; CHX; cycloheximide; Spinal muscular atrophy; SMN1 ge