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

Shaza D Malik Roan Zaied Najeeb Syed Puthen Veettil Jithesh Mashael Al-Shafai

Published in: Human genomics (2021)

This is the first study investigating the molecular basis of G6PDD in Qatar, and it provides novel insights about G6PDD pathogenesis and highlights the importance of studying such understudied population.

Keyphrases

copy number
blood glucose
gene expression
metabolic syndrome
adipose tissue
dna methylation
insulin resistance
skeletal muscle
replacement therapy