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
Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.
Huang Z et al.
Annals of Laboratory Medicine, 2024
Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China.
Li Z et al.
Human Genomics, 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
Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis.
Pfeffer DA et al.
Pathogens (basel, Switzerland), 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
Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.
Wei H et al.
Frontiers in Genetics, 2022
High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.
Islam MT et al.
Bmc Genetics, 2018
Rapid detection of G6PD mutations by multicolor melting curve analysis.
Xia Z et al.
Molecular Genetics and Metabolism, 2016
Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.
Peng Q et al.
Plos One, 2015
Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis.
Yan JB et al.
The Journal of Molecular Diagnostics : Jmd, 2010
[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
Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
Maciag M et al.
Acta Biochimica Polonica, 2007
Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia.
Kawamoto F et al.
Journal of Human Genetics, 2006
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