Article
Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy.
Genetic testing - 1 Jan 2003
Colosimo Alessia, Guida Valentina, Scolari Anna, De Luca Alessandro, Palka Giandomenico, Rigoli Luciana, Meo Anna, Salpietro Damiano Carmelo, Dallapiccola Bruno
Abstract excerpt
Beta-thalassemia, the most common hereditary anemia in the Mediterranean area, results from over 200 causative mutations in the beta-globin locus. The aim of this study was to validate a denaturing high-performance liquid chromatography (dHPLC)-based assay for postnatal and prenatal molecular dia...
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