A case of renal hypouricemia caused by urate transporter 1 gene mutations
Copyright policy )A case of renal hypouricemia caused by urate transporter 1 gene mutations
Hypouricemia is a common disorder in the general population. Herein, renal hypouricemia caused by human urate transporter 1 (hURAT1) gene mutations in a Japanese patient with intellectual disability is reported. She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure. Restriction enzyme analysis with HphI was useful to screen the IVS2+1G>A mutation in hURAT1 gene.
Adult, Heterozygote, Base Sequence, Organic Cation Transport Proteins, Organic Anion Transporters, DNA, Uric Acid, Intellectual Disability, Mutation, Humans, Female, Kidney Diseases, Carrier Proteins
Adult, Heterozygote, Base Sequence, Organic Cation Transport Proteins, Organic Anion Transporters, DNA, Uric Acid, Intellectual Disability, Mutation, Humans, Female, Kidney Diseases, Carrier Proteins
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