AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques
2015
Background and objective
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN). This article aims to identify the deletion exon 7 of SMN1/SMN2 genes in postnatal diagnosis and prenatal diagnosis with spinal muscular atrophy.
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