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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...

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Detalles Bibliográficos
Autores principales: Erdem, Beril, Schulz, Angela, Saglar, Emel, Deniz, Ferhat, Schöneberg, Torsten, Mergen, Hatice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
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