Article
Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN - 1 Aug 1994
Holtzman E J, Kolakowski L F, Geifman-Holtzman O, O'Brien D G, Rasoulpour M, Guillot A P, Ausiello D A
Abstract excerpt
Congenital nephrogenic diabetes insipidus (CNDI) is a rare X-linked disorder in which the renal collecting duct is unresponsive to arginine vasopressin, and thus, the urine is consistently hypotonic to plasma. As a result, affected individuals are unable to concentrate urine and suffer from episo...
Topics
- Adult
- Base Sequence
- DNA
- DNA Mutational Analysis
- Diabetes Insipidus, Nephrogenic
- Female
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Receptors, Vasopressin
- Restriction Mapping
- X Chromosome