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Pubmed ID :30097038
Publication Date : //

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


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 SLC2A9, to be the causative genetic factors of this disorder. However, there are still unresolved patients, suggesting the existence of other causal genes or new mutations. Here, we report an RHUC patient with novel compound heterozygous mutations in the SLC22A12 gene.

Authors : Zhou Zhaowei , Ma Lidan , Zhou Juan , Song Zhijian , Zhang Jinmai , Wang Ke , Chen Boyu , Pan Dun , Li Zhiqiang , Li Changgui , Shi Yongyong ,

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