New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
We have identified a beta-thalassemia gene that carries a novel nonsense mutation in a Chinese patient. This mutation, a G to T substitution at the first position of codon 43, changes the glutamic acid coding triplet (GAG) to a terminator codon (TAG). Based on oligonucleotide hybridization studies o...
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| 發表在: | J Clin Invest |
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| Principais autores: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Clinical Investigation
1988
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303548/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3403716/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113632 |
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