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TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy

Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. The nearly identical SMN2 cannot compensate for SMN1 loss due to exon 7 skipping. The allele C (C (+/+)) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monitor the r...

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Detalles Bibliográficos
Autores principales: Howell, Matthew D., Ottesen, Eric W., Singh, Natalia N., Anderson, Rachel L., Seo, Joonbae, Sivanesan, Senthilkumar, Whitley, Elizabeth M., Singh, Ravindra N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5543135/
https://www.ncbi.nlm.nih.gov/pubmed/28775379
http://dx.doi.org/10.1038/s41598-017-07468-2