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

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...

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Principais autores: Zhaowei Zhou, Lidan Ma, Juan Zhou, Zhijian Song, Jinmai Zhang, Ke Wang, Boyu Chen, Dun Pan, Zhiqiang Li, Changgui Li, Yongyong Shi
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-08-01
coleção:BMC Medical Genetics
Assuntos:
Hypouricemia
Chinese
SLC22A12
Mutation
Whole-exome sequencing
Acesso em linha:http://link.springer.com/article/10.1186/s12881-018-0595-8
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