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Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

Drug-induced readthrough over premature stop codons (PTCs) is a potentially attractive therapy for genetic disorders, but a wide outcome variability has been observed. Through expression studies, we investigated the responsiveness to the readthrough-inducing drug geneticin of 11 rationally selected...

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Pubblicato in:Blood
Autori principali: Branchini, Alessio, Ferrarese, Mattia, Campioni, Matteo, Castaman, Giancarlo, Mari, Rosella, Bernardi, Francesco, Pinotti, Mirko
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5408560/
https://ncbi.nlm.nih.gov/pubmed/28196793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-09-738641
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