Article
Analysis of vasopressin receptor type II (V2R) gene in three Japanese pedigrees with congenital nephrogenic diabetes insipidus: identification of a family with complete deletion of the V2R gene.
European journal of endocrinology - 1 Jun 1996
Jinnouchi H, Araki E, Miyamura N, Kishikawa H, Yoshimura R, Isami S, Yamaguchi K, Iwamatsu H, Shichiri M
Abstract excerpt
To investigate the association of mutations in the arginine vasopressin receptor type II (V2R) gene with congenital nephrogenic diabetes insipidus (CNDI) in the Japanese, we analyzed the V2R gene, located on the X chromosome, in three Japanese pedigrees with CNDI. In one pedigree, a large deletio...
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