Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
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Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinica... ...