Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel

BACKGROUND: Autosomal dominant inheritance of congenital nephrogenic diabetes insipidus (CNDI) is rare and usually caused by variations in the AQP2 gene. We have investigated the genetic and molecular background underlying symptoms of diabetes insipidus (DI) in a Swedish family with autosomal domina...

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Publicat a:BMC Nephrol
Autors principals: Dollerup, Pia, Thomsen, Troels Møller, Nejsum, Lene N., Færch, Mia, Österbrand, Martin, Gregersen, Niels, Rittig, Søren, Christensen, Jane H., Corydon, Thomas J.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696136/
https://ncbi.nlm.nih.gov/pubmed/26714855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-015-0213-3
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