Common genetic variants of the human UMOD gene are functional on transcription and predict plasma uric acid in two distinct populations

Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia, decreased renal excretion of UMOD and uric acid; such findings suggest a role for UMOD in the regulation of plasma uric acid. We screened common variants across the UMOD locus in two...

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Hauptverfasser: Han, Jia, Liu, Ying, Rao, Fangwen, Nievergelt, Caroline M., O’Connor, Daniel T., Wang, Xingyu, Liu, Lisheng, Bu, Dingfang, Liang, Yu, Wang, Fang, Zhang, Luxia, Zhang, Hong, Chen, Yuqing, Wang, Haiyan
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3687544/
https://ncbi.nlm.nih.gov/pubmed/23344472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2012.449
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