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Standardized, systemic phenotypic analysis of Slc12a1(I299F) mutant mice

BACKGROUND: Type I Bartter syndrome is a recessive human nephropathy caused by loss-of-function mutations in the SLC12A1 gene coding for the Na(+)-K(+)-2Cl(−) cotransporter NKCC2. We recently established the mutant mouse line Slc12a1(I299F) exhibiting kidney defects highly similar to the late-onset...

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Detalles Bibliográficos
Autores principales: Kemter, Elisabeth, Rathkolb, Birgit, Becker, Lore, Bolle, Ines, Busch, Dirk H, Dalke, Claudia, Elvert, Ralf, Favor, Jack, Graw, Jochen, Hans, Wolfgang, Ivandic, Boris, Kalaydjiev, Svetoslav, Klopstock, Thomas, Rácz, Ildikó, Rozman, Jan, Schrewe, Anja, Schulz, Holger, Zimmer, Andreas, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabé, Wolf, Eckhard, Aigner, Bernhard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237776/
https://www.ncbi.nlm.nih.gov/pubmed/25084970
http://dx.doi.org/10.1186/s12929-014-0068-0