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Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy

It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient amounts of survival motor neuron (SMN) protein. SMN is required for the biogenesis of small nuclear ribonucleopr...

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Detalles Bibliográficos
Autores principales: Clelland, Allyson Kara, Bales, Alexandra Beatrice E., Sleeman, Judith Elizabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Company of Biologists 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3403233/
https://www.ncbi.nlm.nih.gov/pubmed/22393244
http://dx.doi.org/10.1242/jcs.096867