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Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences
In-frame premature termination codons (PTCs) account for ∼11% of all disease-associated mutations. PTC suppression therapy utilizes small molecules that suppress translation termination at a PTC to restore synthesis of a full-length protein. PTC suppression is mediated by the base pairing of a near-...
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| Veröffentlicht in: | Hum Mol Genet |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886253/ https://ncbi.nlm.nih.gov/pubmed/28575328 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx196 |
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