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Autor:
Janik Laframboise, Gabriel Sanchez, Janie Timbers, Hector Valderrama-Carvajal, Jocelyn Côté, Lisa Hubers
Publikováno v:
Human Molecular Genetics. 20:553-579
Spinal muscular atrophy is an autosomal-recessive neuromuscular disease caused by disruption of the survival of motor neuron (SMN) gene, which promotes cytoplasmic assembly of the splicing core machinery. It remains unclear how a deficiency in SMN re