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• W2086042564 abstract "The silent beta-thalassemia mutation, beta(+)-101C-->T, is the only mutation currently described in the distal beta-globin CACCC box. We present a novel mutation, a C-->G transversion, in the same position. Expression analysis in heterozygous subjects demonstrated that the mutation determines a 20% reduction in the output of the beta-globin gene. DNA-protein interaction and transactivation analysis correlated the decrease in the beta-globin synthesis with the reduced binding and transactivation of EKLF to the mutant promoter. These data predict that the beta-101C-->G mutation will display a silent thalassemia phenotype similar to that of the beta-101C-->T mutation." @default.
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• W2086042564 date "2004-08-16" @default.
• W2086042564 modified "2023-10-17" @default.
• W2086042564 title "A novel silent β-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF" @default.
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• W2086042564 doi "https://doi.org/10.1111/j.1365-2141.2004.05146.x" @default.
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