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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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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 |