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Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late
Spinal muscular atrophy (SMA) is caused by low survival motor neuron (SMN) levels and patients represent a clinical spectrum due primarily to varying copies of the survival motor neuron-2 (SMN2) gene. Patient and animals studies show that disease severity is abrogated as SMN levels increase. Since t...
Autores principales: | Hammond, Suzan M., Gogliotti, Rocky G., Rao, Vamshi, Beauvais, Ariane, Kothary, Rashmi, DiDonato, Christine J. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012126/ https://www.ncbi.nlm.nih.gov/pubmed/21249120 http://dx.doi.org/10.1371/journal.pone.0015887 |
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