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Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus

Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germ-line mutations of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. Recent molecular studies have demonstrated that insensitivity of renal tubule cells to AVP is associated with AVPR...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Moon, Sung-Dae, Kim, Ju-Hee, Shim, Joo-Yun, Lim, Dong-Jun, Cha, Bong-Yun, Han, Je-Ho
Format: Artigo
Sprache:Inglês
Veröffentlicht: e-Century Publishing Corporation 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3048978/
https://ncbi.nlm.nih.gov/pubmed/21394280
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