Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients

The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6...

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Veröffentlicht in:	Clinical biochemistry 2016-07, Vol.49 (10-11), p.808-810
Hauptverfasser:	Chaves, Alejandro, Eberle, Silvia Eandi, Defelipe, Lucas, Pepe, Carolina, Milanesio, Berenice, Aguirre, Fernando, Fernandez, Diego, Turjanski, Adrian, Feliú-Torres, Aurora
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarkers - metabolism Child, Preschool DNA - genetics Erythrocytes - enzymology Erythrocytes - pathology Female G6PD deficiency G6PD DNA variants Genetic Variation - genetics Glucosephosphate Dehydrogenase - chemistry Glucosephosphate Dehydrogenase - genetics Glucosephosphate Dehydrogenase Deficiency - enzymology Glucosephosphate Dehydrogenase Deficiency - genetics Hematologic Tests Hemolytic anemia Humans Male Polymerase Chain Reaction Prognosis Protein Conformation
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