Article
Molecular and cellular defects in nephrogenic diabetes insipidus.
Current opinion in nephrology and hypertension - 1 Jul 1996
Knoers N V, van Os C H
Abstract excerpt
Nephrogenic diabetes insipidus is a rare genetic disorder characterized by insensitivity of the distal nephron to the antidiuretic effect of arginine vasopressin. Two different molecular defects underlying this disease have so far been identified. Mutations in the gene encoding the vasopressin ty...
Topics
- Amino Acid Sequence
- Animals
- Aquaporin 2
- Aquaporin 6
- Aquaporins
- Diabetes Insipidus, Nephrogenic
- Female
- Genes, Recessive
- Genetic Carrier Screening
- Genetic Counseling
- Humans
- Ion Channels
- Male
- Molecular Sequence Data
- Mutation
- Protein Structure, Secondary
- Receptors, Vasopressin
- X Chromosome