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

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 SLC2A9,...

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Publicat a:BMC Med Genet
Autors principals: Zhou, Zhaowei, Ma, Lidan, Zhou, Juan, Song, Zhijian, Zhang, Jinmai, Wang, Ke, Chen, Boyu, Pan, Dun, Li, Zhiqiang, Li, Changgui, Shi, Yongyong
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6086067/
https://ncbi.nlm.nih.gov/pubmed/30097038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0595-8
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