Article
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Clinical chemistry and laboratory medicine - 1 Dec 2010
Shammas Christos, Papasavva Thessalia, Felekis Xenia, Christophorou Christos, Roomere Hanno, Synodinos Jan Traeger, Kanavakis Emmanuel, El-Khateeb Mohammed, Hamamy Hanan, Mahmoud Tamara, Shboul Mohammad, El Beshlawy Amal, Filon Dvora, Hussein Ibtessam R, Galanello Renzo, Romeo Giovanni, Kleanthous Marina
Abstract excerpt
BACKGROUND: The detection and diagnosis of β-thalassaemia for populations with molecular heterogeneity, or diverse ethnic groups, has increased the need for the development of an array high-throughput diagnostic tool that can deliver large scale genetic detection. We report on the update and validation of the ThalassoChip, a β-thalassaemia genetic diagnostic tool which is based on arrayed primer extension (APEX)...
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