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AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques
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 muscula...
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| Publicat a: | Ann Transl Med |
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| Autors principals: | , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
AME Publishing Company
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563514/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB140 |
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