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Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus
Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the inability to concentrate urine. While central diabetes insipidus is caused by mutations in the AVP, the reason for genetically determined nephrogenic diabetes insipidus can be mutations in AQP2 or AV...
Autores principales: | Erdem, Beril, Schulz, Angela, Saglar, Emel, Deniz, Ferhat, Schöneberg, Torsten, Mergen, Hatice |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5744627/ https://www.ncbi.nlm.nih.gov/pubmed/29117938 http://dx.doi.org/10.1530/EC-17-0236 |
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