Article
Development of a high-resolution melting analysis for the detection of the SF3B1 mutations.
Genetic testing and molecular biomarkers - 1 Apr 2013
Yang Jing, Qian Jun, Lin Jiang, Yang Xiao-fei, Qian Wei, Chen Qin, Yao Dong-ming, Wang Cui-zhu, Chen Xing-xing, Xiao Gao-fei, Ma Yu-Juan
Abstract excerpt
SF3B1, located on chromosome 2q33.1, encodes a core component of RNA-splicing machinery, and its mutation has been described in myelodysplastic syndromes (MDS) characterized with ring sideroblasts (RS). To explore the reliability and sensitivity of the high-resolution melting analysis (HRMA) technique for the identification of the SF3B1 mutations, mutations in 92 patients with MDS were detected in this study. The...
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