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
Identification and in vitro functional assessment of 10 CYP2C9 variants found in Chinese Han subjects.
Zhang Q et al.
Frontiers in Endocrinology, 2023
Glucose-6-phosphate dehydrogenase deficiency screening and gene analysis in blood donors of Guangdong province.
Liang HF et al.
Hematology (amsterdam, Netherlands), 2022
Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.
Ren ZM et al.
Hemoglobin, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.
Shen S et al.
Frontiers in Genetics, 2022
Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population.
Sanephonasa A et al.
Malaria Journal, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
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
G6PD deficiency: the genotype-phenotype association.
Mason PJ et al.
Blood Reviews, 2007
Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia.
Kawamoto F et al.
Journal of Human Genetics, 2006
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population.
Matsuoka H et al.
Journal of Human Genetics, 2004
Five different glucose-6-phophate [correction phosphate]dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia.
Matsuoka H et al.
Journal of Human Genetics, 2003
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia.
Iwai K et al.
Human Genetics, 2001
Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase.
van Wijk R et al.
Blood Cells, Molecules & Diseases, 0
Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis.
Yavarian M et al.
Blood Cells, Molecules & Diseases, 0