Associated Papers
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
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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
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
Pirulli D et al.
Human Genetics, 1999
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Coulter-Mackie MB
American Journal of Nephrology, 0
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