Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the e...

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Detalles Bibliográficos
Autores principales: Fujimoto, Masaya, Imai, Kohsuke, Hirata, Kenji, Kashiwagi, Reiichi, Morinishi, Yoichi, Kitazawa, Katsuhiko, Sasaki, Sei, Arinami, Tadao, Nonoyama, Shigeaki, Noguchi, Emiko
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413213/
https://www.ncbi.nlm.nih.gov/pubmed/18489790
http://dx.doi.org/10.1186/1471-2350-9-42

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