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
Autores principales: Dollerup, Pia, Thomsen, Troels Møller, Nejsum, Lene N., Færch, Mia, Österbrand, Martin, Gregersen, Niels, Rittig, Søren, Christensen, Jane H., Corydon, Thomas J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696136/
https://www.ncbi.nlm.nih.gov/pubmed/26714855
http://dx.doi.org/10.1186/s12882-015-0213-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696136/
https://www.ncbi.nlm.nih.gov/pubmed/26714855
http://dx.doi.org/10.1186/s12882-015-0213-3

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