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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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Bibliographische Detailangaben
Veröffentlicht in:BMC Biotechnol
Hauptverfasser: Salvatori, Francesca, Pappadà, Mariangela, Breveglieri, Giulia, D’Aversa, Elisabetta, Finotti, Alessia, Lampronti, Ilaria, Gambari, Roberto, Borgatti, Monica
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
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Online Zugang: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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