Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
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Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
Takayama T et al.
Clinical Genetics, 2014
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.
Booth MP et al.
Journal of Molecular Biology, 2006
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
Cregeen DP et al.
Human Mutation, 2003
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