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
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
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
Prevalence and molecular characterization of G6PD deficiency in two Plasmodium vivax endemic areas in Venezuela: predominance of the African A-(202A/376G) variant.
Vizzi E et al.
Malaria Journal, 2016
Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome.
Dell'edera D et al.
Molecular Medicine Reports, 2012
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
B R et al.
Plos One, 2011
[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
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion).
Minucci A et al.
Journal of Separation Science, 2008
Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia.
Daoud BB et al.
Pathologie-biologie, 2008
Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
Maciag M et al.
Acta Biochimica Polonica, 2007
Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency.
Pietrapertosa A et al.
Haematologica, 2001
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.
Cittadella R et al.
Annals of Human Genetics, 1997
[Biochemical study of glucose-6-phosphatase and glucose-6-phosphate dehydrogenase activities in the bovine cornea].
Jonadet M et al.
Pathologie Et Biologie, 1967
[Variations of glucose-6-phosphate dehydrogenase].
Boivin P et al.
Pathologie-biologie, 0
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.
Martinez di Montemuros F et al.
Haematologica, 0