Development of K562 cell clones expressing β-globin mRNA carrying the β(0)39 thalassaemia mutation for the screening of correctors of stop-codon mutations

Nonsense mutations, giving rise to UAA, UGA and UAG stop codons within the coding region of mRNAs, promote premature translational termination and are the leading cause of approx. 30 % of inherited diseases, including cystic fibrosis, Duchenne muscular dystrophy and thalassaemia. For instance, in β(...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Salvatori, Francesca, Cantale, Vera, Breveglieri, Giulia, Zuccato, Cristina, Finotti, Alessia, Bianchi, Nicoletta, Borgatti, Monica, Feriotto, Giordana, Destro, Federica, Canella, Alessandro, Breda, Laura, Rivella, Stefano, Gambari, Roberto
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2009
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582994/
https://ncbi.nlm.nih.gov/pubmed/19216718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BA20080266
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