Gene Analysis of Uric Acid Transporter (URAT1)
In 7 patients with renal hypouricemia who developed exercise-induced acute renal failure (ALPE), gene analysis was performed to investigate URAT1 mutation [117,126,149,155] (Table 10, Cases 1–7). The W258X homozygote, W258X heterozygote, and W258X/Q297X compound heterozygote were detected in 5, 1, and 1 patients, respectively.
KeywordsUric Acid Serum Uric Acid Uric Acid Level Serum Uric Acid Level Compound Heterozygote
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