Article
Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus.
Kidney international - 1 Aug 1995
Tsukaguchi H, Matsubara H, Inada M
Abstract excerpt
Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder associated with renal tubule resistance to arginine vasopressin (AVP). To understand the mechanisms of AVP resistance underlying this disorder, we have analyzed the vasopressin V2 receptor gene in two unrelated Japanese kindreds wit...
Topics
- Adult
- Amino Acid Sequence
- Animals
- CHO Cells
- Cricetinae
- Diabetes Insipidus, Nephrogenic
- Gene Expression
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, Vasopressin