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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...

詳細記述

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書誌詳細
出版年:Blood
主要な著者: Branchini, Alessio, Ferrarese, Mattia, Campioni, Matteo, Castaman, Giancarlo, Mari, Rosella, Bernardi, Francesco, Pinotti, Mirko
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Hematology 2017
主題:
オンライン・アクセス: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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