Article
Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene.
Kidney international - 1 Jul 2003
Bleyer Anthony J, Woodard Arch S, Shihabi Zak, Sandhu Jaspreet, Zhu Honping, Satko Scott G, Weller Nelson, Deterding Elizabeth, McBride Debra, Gorry Michael C, Xu Linda, Ganier Deann, Hart Thomas C
Abstract excerpt
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 mutation in the uromodulin gene. METHODS: An extended family suffering from hyperuricemia and gout was identified by a...
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