| Title | Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency. | | Author(s) | Minucci A, Concolino P, Antenucci M, Santonocito C, Ameglio F, Zuppi C, Giardina B, Capoluongo E | | Institution | Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry, Catholic University, Largo F. Vito 1, 00168, Rome, Italy. | | Source | Clin Biochem 2007 Apr 20. | | 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. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 17524386 |
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