Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
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
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population.
Thedsawad A et al.
Annals of Hematology, 2022
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
Combined effects of double mutations on catalytic activity and structural stability contribute to clinical manifestations of glucose-6-phosphate dehydrogenase deficiency.
Pakparnich P et al.
Scientific Reports, 2021
Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants.
Arunachalam AK et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2020
A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Boonyuen U et al.
International Journal of Biological Macromolecules, 2017
Further Molecular Analysis of G6PD Deficiency Variants in Southern Vietnam and a Novel Variant Designated as G6PD Ho Chi Minh (173 A>G; 58 Asp>Gly): Frequency Distributions of Variants Compared with Those in Other Southeast Asian Countries.
Kawamoto F et al.
Acta Medica Okayama, 2017
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.
Ng D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Direct detection for G6PD Bangkok and G6PD Bangkok Noi mutations in the families with chronic nonspherocytic hemolytic anemia (CNSHA).
Glomglao W et al.
International Journal of Laboratory Hematology, 2015
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.
Minucci A et al.
Blood Cells, Molecules & Diseases, 2012
Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi.
Tanphaichitr VS et al.
Annals of Hematology, 2011
[Chronic hemolytic anemia due to erythrocytic deficiency of glucose-60-phosphate dehydrogenase (G6PD)].
Cutillo S
La Pediatria, 1979