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Spinal muscular atrophy: An update on therapeutic progress
Humans have two nearly identical copies of survival motor neuron gene: SMN1 and SMN2. Deletion or mutation of SMN1 combined with the inability of SMN2 to compensate for the loss of SMN1 results in spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. SMA affects 1 in ~6000 live...
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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2013
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3825772/ https://ncbi.nlm.nih.gov/pubmed/23994186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.08.005 |
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