Pathological impact of SMN2 mis-splicing in adult SMA mice

Loss-of-function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients reach adulthood, and there is also adult-onset (type IV) SMA....

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Detalles Bibliográficos
Autores principales: Sahashi, Kentaro, Ling, Karen K Y, Hua, Yimin, Wilkinson, John Erby, Nomakuchi, Tomoki, Rigo, Frank, Hung, Gene, Xu, David, Jiang, Ya-Ping, Lin, Richard Z, Ko, Chien-Ping, Bennett, C Frank, Krainer, Adrian R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799581/
https://www.ncbi.nlm.nih.gov/pubmed/24014320
http://dx.doi.org/10.1002/emmm.201302567

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