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
G6PD deficiency in Malaysia's Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study.
Zailani MAH et al.
Plos One, 2025
Pathogenic G6PD variants: Different clinical pictures arise from different missense mutations in the same codon.
Costa S et al.
British Journal of Haematology, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.
Xuan-Rong Koh D et al.
Plos One, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
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
Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation.
Alina MF et al.
Journal of Human Genetics, 2020
Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution.
Powers JL et al.
The Journal of Applied Laboratory Medicine, 2018
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
A Multi-scale Computational Platform to Mechanistically Assess the Effect of Genetic Variation on Drug Responses in Human Erythrocyte Metabolism.
Mih N et al.
Plos Computational Biology, 2016
Glucose-6-phosphate dehydrogenase--beyond the realm of red cell biology.
Ho HY et al.
Free Radical Research, 2014
[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PD(Plymouth) and G6PD(Mahidol): Evidence for defective protein folding as the basis of disease.
Huang Y et al.
Molecular Genetics and Metabolism, 2008
G6PD deficiency: the genotype-phenotype association.
Mason PJ et al.
Blood Reviews, 2007
Functional properties of two mutants of human glucose 6-phosphate dehydrogenase, R393G and R393H, corresponding to the clinical variants G6PD Wisconsin and Nashville.
Wang XT et al.
Biochimica Et Biophysica Acta, 2006
Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus).
Wang XT et al.
Human Mutation, 2005
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
Arlt W et al.
Lancet (london, England), 2004
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays.
Ainoon O et al.
Human Mutation, 2003