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UPF1 silenced cellular model systems for screening of read-through agents active on β(0)39 thalassemia point mutation
BACKGROUND: Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia. For instance, in β(0)39 thalassemia the CAG (glutamine) codon is mutated to the UAG stop codon, leading to prem...
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| 出版年: | BMC Biotechnol |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2018
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5952824/ https://ncbi.nlm.nih.gov/pubmed/29764417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12896-018-0435-0 |
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