Associated Papers
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Mou L et al.
Molecular Diagnosis & Therapy, 2024
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Liu Y et al.
Human Genome Variation, 2023
37217505 (PubMed )
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Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.
Wang Z et al.
Frontiers in Genetics, 2023
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
Toyoda Y et al.
Frontiers in Genetics, 2022
Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.
Kawamura Y et al.
Rheumatology (oxford, England), 2020
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.
Misawa K et al.
Genetics, 2020
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
Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.
Lozano E et al.
Journal of Personalized Medicine, 2018
[Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
Luo KZ et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2006
A case of renal hypouricemia caused by urate transporter 1 gene mutations.
Inazu T
Clinical Nephrology, 2006
Mutational analysis of idiopathic renal hypouricemia in Korea.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2005
Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese.
Takahashi T et al.
Pediatric Nephrology (berlin, Germany), 2005
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