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Variable readthrough responsiveness of nonsense mutations in hemophilia A

Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins from mRNA carrying nonsense mutations. In pati...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Haematologica
Prif Awduron: Martorell, Lluis, Cortina, Vicente, Parra, Rafael, Barquinero, Jordi, Vidal, Francisco
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Ferrata Storti Foundation 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012483/
https://ncbi.nlm.nih.gov/pubmed/31197069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2018.212118
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