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Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. SMN is a critical mediator of spliceosomal protein assembly, and complete loss or drastic reduction in protein leads to loss of...

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Detalles Bibliográficos
Autores principales: Bäumer, Dirk, Lee, Sheena, Nicholson, George, Davies, Joanna L., Parkinson, Nicholas J., Murray, Lyndsay M., Gillingwater, Thomas H., Ansorge, Olaf, Davies, Kay E., Talbot, Kevin
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787017/
https://www.ncbi.nlm.nih.gov/pubmed/20019802
http://dx.doi.org/10.1371/journal.pgen.1000773