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Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

Thirty-five percent of patients with Rett syndrome carry nonsense mutations in the MECP2 gene. We have recently shown in transfected HeLa cells that readthrough of nonsense mutations in the MECP2 gene can be achieved by treatment with gentamicin and geneticin. This study was performed to test if rea...

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Detalles Bibliográficos
Autores principales: Brendel, Cornelia, Belakhov, Valery, Werner, Hauke, Wegener, Eike, Gärtner, Jutta, Nudelman, Igor, Baasov, Timor, Huppke, Peter
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055984/
https://www.ncbi.nlm.nih.gov/pubmed/21120444
http://dx.doi.org/10.1007/s00109-010-0704-4