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

• 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)
• 格式: 圖書
• 出版: BMC, 2018-08-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

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...