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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...

詳細記述

保存先:
書誌詳細
出版年:BMC Biotechnol
主要な著者: Salvatori, Francesca, Pappadà, Mariangela, Breveglieri, Giulia, D’Aversa, Elisabetta, Finotti, Alessia, Lampronti, Ilaria, Gambari, Roberto, Borgatti, Monica
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2018
主題:
オンライン・アクセス: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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