Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor

Mutations in the arginine vasopressin receptor 2 (AVPR2) gene can cause X-linked nephrogenic diabetes insipidus (NDI) characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel mutati...

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Detalles Bibliográficos
Autores principales: Nejsum, Lene N., Christensen, Tomas M., Robben, Joris H., Milligan, Graeme, Deen, Peter M. T., Bichet, Daniel G., Levin, Klaus
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
II. Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103721/
https://www.ncbi.nlm.nih.gov/pubmed/21629670
http://dx.doi.org/10.1093/ndtplus/sfr010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103721/
https://www.ncbi.nlm.nih.gov/pubmed/21629670
http://dx.doi.org/10.1093/ndtplus/sfr010

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