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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Detalles Bibliográficos
Publicado en:BMC Nephrol
Main Authors: Dollerup, Pia, Thomsen, Troels Møller, Nejsum, Lene N., Færch, Mia, Österbrand, Martin, Gregersen, Niels, Rittig, Søren, Christensen, Jane H., Corydon, Thomas J.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2015
Assuntos:
Research Article
Acceso en liña: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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