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Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBB(IVSI−110 (G > A)) β-Thalassemia
The β-thalassemias are an increasing challenge to health systems worldwide, caused by absent or reduced β-globin (HBB) production. Of particular frequency in many Western countries is HBB(IVSI−110(G > A)) β-thalassemia (HGVS name: HBB:c.93-21G > A). Its underlying mutation creates an abnormal...
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| 發表在: | Int J Mol Sci |
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| Main Authors: | , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
MDPI
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7555009/ https://ncbi.nlm.nih.gov/pubmed/32933098 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21186671 |
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