Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.
Tacoli C et al.
Biorxiv : the Preprint Server for Biology, 2025
40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1
Genetic basis and spatial distribution of glucose-6-phosphate dehydrogenase deficiency in ecuadorian ethnic groups: a malaria perspective.
Atarihuana S et al.
Malaria Journal, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants
Stabilization of glucose-6-phosphate dehydrogenase oligomers enhances catalytic activity and stability of clinical variants.
Garcia AA et al.
The Journal of Biological Chemistry, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles
Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.
Lee HY et al.
Frontiers in Pediatrics, 2022
G6PD deficiency and Harilaou variant in a newborn: Intrauterine haemolysis and meconium aspiration syndrome.
Athanasiadou KI et al.
Journal of Mother and Child, 2021
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells.
Makarona K et al.
Blood, 2014
A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil.
Oliveira RA et al.
Genetics and Molecular Biology, 2009
Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.
Patrinos GP et al.
Human Mutation, 2005
Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.
Au SW et al.
Structure (london, England : 1993), 2000
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