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Recoding of Nonsense Mutation as a Pharmacological Strategy

Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a nonsense-mediated decay (NMD) pathway. The NM...

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Detalles Bibliográficos
Autores principales: Temaj, Gazmend, Telkoparan-Akillilar, Pelin, Nuhii, Nexhibe, Chichiarelli, Silvia, Saha, Sarmistha, Saso, Luciano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10044939/
https://www.ncbi.nlm.nih.gov/pubmed/36979640
http://dx.doi.org/10.3390/biomedicines11030659