Gene mutation and qualitative enzyme assay of G٦PD enzyme deficiency in neonatal hyperbilirubinemia /
Othman Rizk Abdelmeguid Mishref
Gene mutation and qualitative enzyme assay of G٦PD enzyme deficiency in neonatal hyperbilirubinemia / التحور الجينى و الكشف الكيفى لنقص إنزيم جلوكوز٦فوسفات الهيدروجين فى الأطفال حديثى الولادة الذين يعانون من صفراء بالدم Othman Rizk Abdelmeguid Mishref ; Supervised Zahraa Mohamed Ezz Eldeen , Shahira Amin Zayed , Nouran Fahmy Hussein - Cairo : Othman Rizk Abdelmeguid Mishref , 2013 - 158 P. : charts , photographs ; 25cm
Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency variants is essential, especially since the biochemical characterization has lost its significance due to the individual variability. As a result, cases can be misdiagnosed. The present study was designed to determine the incidence of G6PD mediterranean (Med) mutation among Egyptian children with G6PD deficiency as well as its molecular association with the G6PD 1311T silent polymorphism
G6PD deficiency Mediterranean mutation PCR-RFLP
Gene mutation and qualitative enzyme assay of G٦PD enzyme deficiency in neonatal hyperbilirubinemia / التحور الجينى و الكشف الكيفى لنقص إنزيم جلوكوز٦فوسفات الهيدروجين فى الأطفال حديثى الولادة الذين يعانون من صفراء بالدم Othman Rizk Abdelmeguid Mishref ; Supervised Zahraa Mohamed Ezz Eldeen , Shahira Amin Zayed , Nouran Fahmy Hussein - Cairo : Othman Rizk Abdelmeguid Mishref , 2013 - 158 P. : charts , photographs ; 25cm
Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency variants is essential, especially since the biochemical characterization has lost its significance due to the individual variability. As a result, cases can be misdiagnosed. The present study was designed to determine the incidence of G6PD mediterranean (Med) mutation among Egyptian children with G6PD deficiency as well as its molecular association with the G6PD 1311T silent polymorphism
G6PD deficiency Mediterranean mutation PCR-RFLP