Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region.
Silva JNV et al.
Blood Transfusion = Trasfusione Del Sangue, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 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
Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.
Chandran S et al.
Biomedicine, 2024
An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.
Hernández-Ochoa B et al.
International Journal of Molecular Sciences, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.
Manco L et al.
Acta Medica Portuguesa, 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
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
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
The stability of G6PD is affected by mutations with different clinical phenotypes.
Gómez-Manzo S et al.
International Journal of Molecular Sciences, 2014
G6PD deficiency in Latin America: systematic review on prevalence and variants.
Monteiro WM et al.
Memorias Do Instituto Oswaldo Cruz, 2014
Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.
Benmansour I et al.
Blood Cells, Molecules & Diseases, 2013
A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil.
Oliveira RA et al.
Genetics and Molecular Biology, 2009
Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia.
Kawamoto F et al.
Journal of Human Genetics, 2006
[Detection of R277Q mutation of SRD5alpha2 gene by amplification refractory mutation system].
Guang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999
Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants.
Vaca G et al.
Blood Cells, Molecules & Diseases, 0