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Article

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

Clinical biochemistry - 1 Jul 2016

Chaves Alejandro, Eberle Silvia Eandi, Defelipe Lucas, Pepe Carolina, Milanesio Berenice, Aguirre Fernando, Fernandez Diego, Turjanski Adrian, Feliú-Torres Aurora

Abstract excerpt

OBJECTIVE: 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. G6PD deficiency has an x-linked pattern of inheritance in which hemizygous males are deficient, while...

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PMID: 26827633
DOI: 10.1016/j.clinbiochem.2016.01.018

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