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- W2371716166 abstract "Objective To detect five kinds of common β-thalassemia mutations by high-resolution melting (HRM) analysis in China. Methods In this study,we used HRM analysis to identify five kinds of common β-thalassemia mutations in China. The homozygous mutations detected in HRM analysis were verified by DNA sequencing. Results Five kinds of common β-thalassemia mutations were accurately distinguished from homozygote ,heterozygote and wild type by HRM analysis,including-28(c.-78AG),Codon17(c.52AT),Codons41 / 42(c.126_129delCTTT),Codons71 / 72(c.216_217insA) and IVS-Ⅱ-654 (c.316_197CT). The results of DNA sequencing were consistent with the detection of HRM analysis. Conclusion HRM analysis is a simple,accurate and sensitive approach for detecting five kinds of common β-thalassemia mutations in China and it could be used as an optimized method for screening β-thalassemia mutation in clinical field especially in prenatal diagnosis." @default.
- W2371716166 created "2016-06-24" @default.
- W2371716166 creator A5091197146 @default.
- W2371716166 date "2013-01-01" @default.
- W2371716166 modified "2023-09-26" @default.
- W2371716166 title "High-resolution melting analysis for the detection of five kinds of common β-thalassemia mutations in China" @default.
- W2371716166 hasPublicationYear "2013" @default.
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