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2348 Lafora disease premature termination codons (PTCs) are likely candidates for suppression by aminoglycosides

OBJECTIVES/SPECIFIC AIMS: A small molecule therapy is within reach to treat a molecular mechanism known to result in thousands of fatal diseases. For 10% of patients with a genetic disease, a nonsense/STOP mutation/premature termination codon (PTC) is the underlying cause of their malady. PTCs prema...

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Detalles Bibliográficos
Autores principales: Simmons, Zoe R., Sherwood, Amanda, Li, Selena, Garneau-Tsodikova, Sylvie, Gentry, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6799663/
http://dx.doi.org/10.1017/cts.2018.90