Article
Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Aug 1994
Yuasa H, Ito M, Oiso Y, Kurokawa M, Watanabe T, Oda Y, Ishizuka T, Tani N, Ito S, Shibata A
Abstract excerpt
Novel mutations in the V2 vasopressin receptor gene were identified in two Japanese pedigrees with X-linked congenital nephrogenic diabetes insipidus. The V2 receptor belongs to the family of G-protein-coupled receptors that contain seven distinct transmembrane domains, and the V2 receptor gene i...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Diabetes Insipidus
- Exons
- Female
- Genetic Linkage
- Guanine
- Humans
- Infant
- Japan
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Receptors, Vasopressin