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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...

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Detalles Bibliográficos
Autores principales: Hammond, Suzan M., Gogliotti, Rocky G., Rao, Vamshi, Beauvais, Ariane, Kothary, Rashmi, DiDonato, Christine J.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
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