Article
Rapid detection of non-deletional mutations causing α-thalassemia by multicolor melting curve analysis.
Clinical chemistry and laboratory medicine - 1 Mar 2016
Huang Qiuying, Wang Xudong, Tang Ning, Zhu Chunjiang, Yan Tizhen, Chen Ping, Li Qingge
Abstract excerpt
BACKGROUND: α-Thalassemia, caused by mutations in the α-globin genes, is one of the most common monogenic inherited disorders in the world. However, non-deletional α-thalassemia mutations remain undetected in routine clinical testing due to the lack of a suitable method. In this study, a closed- and single-tube assay for the detection of six common non-deletional α-thalassemia mutations in the HBA2 gene was...
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