Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Renal hypouricemia complicated with kidney stone: a case report.
Yang Y et al.
Frontiers in Medicine, 2024
Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.
Zhou Z et al.
Molecular Genetics & Genomic Medicine, 2019
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia.
Li Z et al.
Gene, 2013
Select a paper to view details