Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability.
A common mutation causing thalassemia in Mediterranean populations is an amber (UAG) nonsense mutation at the 39th codon of the human beta-globin gene, the beta-39 mutation. Studies of mRNA metabolism in erythroblasts from patients with beta-39 thalassemia and studies using heterologous transfection...
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| Vydáno v: | Proc Natl Acad Sci U S A |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
National Academy of Sciences
1992
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC48778/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1557399/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.7.2935 |
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