Article
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Human genomics - 7 Oct 2021
Malik Shaza, Zaied Roan, Syed Najeeb, Jithesh Puthen, Al-Shafai Mashael
Abstract excerpt
BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the genetic basis of G6PDD in the Qatari population yet. METHODS: In this study, we analyzed whole-genome sequencing data generated by the Qatar Genome Programme for 6045 Qatar Biobank participants, to...
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