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Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

6 Sept 2019

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese...

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PMID: 31489982
DOI: 10.1002/humu.23911

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