Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury (AKI). Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), type 2 in the SLC2A9 gene (GLUT9). Th...

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Main Authors: Stiburkova, Blanka, Sebesta, Ivan, Ichida, Kimiyoshi, Nakamura, Makiko, Hulkova, Helena, Krylov, Vladimir, Kryspinova, Lenka, Jahnova, Helena
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3778361/
https://ncbi.nlm.nih.gov/pubmed/23386035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.3
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