Article
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion).
Journal of separation science - 1 Aug 2008
Minucci Angelo, Delibato Elisabetta, Castagnola Massimo, Concolino Paola, Ameglio Franco, Zuppi Cecilia, Giardina Bruno, Capoluongo Ettore
Abstract excerpt
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most well-known human genetic defects, identified in more than 400 million individuals in the world. To date, no commercial kits are available for the mutation screening of this disease. Seventy G6PD-deficient Italian individuals admitted to the Laboratory of Clinical Molecular Biology of Hospital "Agostino Gemelli" of Rome were screened for the...
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