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Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China
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 to SMA pa...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7302341/ https://ncbi.nlm.nih.gov/pubmed/32552676 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01069-z |
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