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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Detalles Bibliográficos
Autores principales: Zhou, Zhaowei, Ma, Lidan, Zhou, Juan, Song, Zhijian, Zhang, Jinmai, Wang, Ke, Chen, Boyu, Pan, Dun, Li, Zhiqiang, Li, Changgui, Shi, Yongyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086067/
https://www.ncbi.nlm.nih.gov/pubmed/30097038
http://dx.doi.org/10.1186/s12881-018-0595-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086067/
https://www.ncbi.nlm.nih.gov/pubmed/30097038
http://dx.doi.org/10.1186/s12881-018-0595-8

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