Article
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.
Human mutation - 1 Oct 2003
Su Yi-Ning, Lee Chien-Nan, Hung Chia-Cheng, Chen Chi-An, Cheng Wen-Fang, Tsao Po-Nien, Yu Chia-Li, Hsieh Fon-Jou
Abstract excerpt
Beta-thalassemia is a common inherited disease, resulting from one or more of a total of more than 200 different mutations in the beta-globin gene (HBB). Efficient and reliable mutation-screening methods are essential in order to establish appropriate prevention programs for at-risk populations based upon a molecular diagnosis. We have developed a rapid and highly-specific mutation screening test for the...
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