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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Zhou, Zhaowei, Ma, Lidan, Zhou, Juan, Song, Zhijian, Zhang, Jinmai, Wang, Ke, Chen, Boyu, Pan, Dun, Li, Zhiqiang, Li, Changgui, Shi, Yongyong
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha: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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