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UPF1 silenced cellular model systems for screening of read-through agents active on β(0)39 thalassemia point mutation
BACKGROUND: Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia. For instance, in β(0)39 thalassemia the CAG (glutamine) codon is mutated to the UAG stop codon, leading to prem...
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| Publicado en: | BMC Biotechnol |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5952824/ https://ncbi.nlm.nih.gov/pubmed/29764417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12896-018-0435-0 |
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