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Novel Uromodulin Mutation in Familial Juvenile Hyperuricemic Nephropathy

✍ Scribed by Wei, Xin; Xu, Ricong; Yang, Zhenhua; Li, Zhijian; Liao, Yunhua; Johnson, Richard J.; Yu, Xueqing; Chen, Wei


Book ID
111931945
Publisher
S. Karger AG
Year
2012
Tongue
English
Weight
819 KB
Volume
36
Category
Article
ISSN
0250-8095

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## Background: We have recently identified a mutation in the uromodulin gene in a large family affected with hyperuricemia, gout, and renal failure. the purpose of this investigation is to provide a comprehensive characterization of the clinical findings of this syndrome in family members who had a