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  • Title: Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.
    Author: Minucci A, Concolino P, Antenucci M, Santonocito C, Ameglio F, Zuppi C, Giardina B, Capoluongo E.
    Journal: Clin Biochem; 2007 Aug; 40(12):856-8. PubMed ID: 17524386.
    Abstract:
    We report a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate dehydrogenase (G6PD) activity. A novel genetic mutation (G130A) in the third exon was found. We named this novel mutation the "G6PD RIGNANO variant". These findings may contribute to a better knowledge of molecular epidemiology of the G6PD mutation and may represent an additional variant to be studied for a deep comprehension of in vivo compensation mechanisms of G6PD deficiency.
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