Associated Papers
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB et al.
Bmc Nephrology, 2021
33691640 (PubMed )
Supplement: 12882_2021_2276_MOESM5_ESM.xlsx › Sheet1
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.
Wang C et al.
Scientific Reports, 2016
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Boualla L et al.
Genetic Testing and Molecular Biomarkers, 2015
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Williams EL et al.
Human Mutation, 2009
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG et al.
Journal of the American Society of Nephrology : Jasn, 2007
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2006
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2003
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Coulter-Mackie MB
American Journal of Nephrology, 0
Select a paper to view details