Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice.

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...

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Auteurs principaux:	Elisabeth Kemter, Petra Prückl, Birgit Rathkolb, Kateryna Micklich, Thure Adler, Lore Becker, Johannes Beckers, Dirk H Busch, Alexander A Götz, Wolfgang Hans, Marion Horsch, Boris Ivandic, Martin Klingenspor, Thomas Klopstock, Jan Rozman, Anja Schrewe, Holger Schulz, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabé de Angelis, Eckhard Wolf, Bernhard Aigner
Format:	Artigo
Langue:	Inglês
Publié:	Public Library of Science (PLoS) 2013-01-01
Collection:	PLoS ONE
Accès en ligne:	http://europepmc.org/articles/PMC3813435?pdf=render
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