A novel mutation affecting the arginine‐137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin‐2

Mutations in the vasopressin V2 receptor gene AVPR2 may cause X‐linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin‐2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome of inappropriat...

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Detalles Bibliográficos
Autores principales: Hinrichs, Gitte R., Hansen, Louise H., Nielsen, Maria R., Fagerberg, Christina, Dieperink, Hans, Rittig, Søren, Jensen, Boye L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848722/
https://www.ncbi.nlm.nih.gov/pubmed/27117808
http://dx.doi.org/10.14814/phy2.12764

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