The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans
Keywords: زنده ماندن از نورون موتور; SMA; spinal muscular atrophy; SMN; survival of motor neuron; NMD; nonsense-mediated decay; PTC; premature termination codon; fl-SMN1; full-length SMN1; DMEM; Dulbecco's modified Eagle's medium; MLPA; multiplex ligation-dependent probe amplification; PCR;