Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review

Abstract Background Renal hypouricemia (RHUC) is a heterogeneous genetic disorder that is characterized by decreased serum uric acid concentration and increased fractional excretion of uric acid. Previous reports have revealed many functional mutations in two urate transporter genes, SLC22A12 and/or...

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Main Authors: Zhaowei Zhou (Author), Lidan Ma (Author), Juan Zhou (Author), Zhijian Song (Author), Jinmai Zhang (Author), Ke Wang (Author), Boyu Chen (Author), Dun Pan (Author), Zhiqiang Li (Author), Changgui Li (Author), Yongyong Shi (Author)
Format: Book
Published: BMC, 2018-08-01T00:00:00Z.
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3rd Floor Main Library

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