Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

Abstract 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...

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Hlavní autoři:	Shaza Malik, Roan Zaied, Najeeb Syed, Puthen Jithesh, Mashael Al-Shafai
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2021-10-01
Edice:	Human Genomics
Témata:	G6PD deficiency Whole-genome sequencing (WGS) Novel variants Qatar Biobank (QBB) Qatar Genome Programme (QGP)
On-line přístup:	https://doi.org/10.1186/s40246-021-00358-9
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