Article
Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice.
PloS one - 1 Jan 2013
Kemter Elisabeth, Prückl Petra, Rathkolb Birgit, Micklich Kateryna, Adler Thure, Becker Lore, Beckers Johannes, Busch Dirk H, Götz Alexander A, Hans Wolfgang, Horsch Marion, Ivandic Boris, Klingenspor Martin, Klopstock Thomas, Rozman Jan, Schrewe Anja, Schulz Holger, Fuchs Helmut, Gailus-Durner Valérie, Hrabé de Angelis Martin, Wolf Eckhard, Aigner Bernhard
Abstract excerpt
Uromodulin-associated kidney disease (UAKD) summarizes different clinical features of an autosomal dominant heritable disease syndrome in humans with a proven uromodulin (UMOD) mutation involved. It is often characterized by hyperuricemia, gout, alteration of urine concentrating ability, as well as a variable rate of disease progression inconstantly leading to renal failure and histological alterations of the...
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