A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy

5q spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans and the leading genetic cause of infantile death. Patients lack a functional survival of motor neurons (SMN1) gene, but carry one or more copies of the highly homologous SMN2 gene. A homozygous knockout of the single...

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Detalles Bibliográficos
Autores principales: Monani, Umrao R., Pastore, Matthew T., Gavrilina, Tatiana O., Jablonka, Sibylle, Le, Thanh T., Andreassi, Catia, DiCocco, Jennifer M., Lorson, Christian, Androphy, Elliot J., Sendtner, Michael, Podell, Michael, Burghes, Arthur H.M.
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2003
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172739/
https://www.ncbi.nlm.nih.gov/pubmed/12515823
http://dx.doi.org/10.1083/jcb.200208079

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