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Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene

✍ Scribed by Anthony J Bleyer; Howard Trachtman; Jaspreet Sandhu; Michael C Gorry; Thomas C Hart


Book ID
114204090
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
156 KB
Volume
42
Category
Article
ISSN
0272-6386

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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