Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China
Abstract Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been approved by the FDA, bringing hope t...
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BMC,
2020-06-01T00:00:00Z.
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| Número de Clasificación: |
A1234.567 |
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