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A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy

✍ Scribed by Akira Iguchi, Atsushi Eino, Hajime Yamazaki, Tomoyuki Ito, Takako Saeki…

Book ID: 120736520
Publisher: Springer-Verlag
Year: 2013
Tongue: English
Weight: 600 KB
Volume: 2
Category: Article
ISSN: 2192-4449
DOI: 10.1007/s13730-013-0069-y

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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