Article
Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
Genetic testing - 1 Jan 2006
Boson W L, Della Manna T, Damiani D, Miranda D M, Gadelha M R, Liberman B, Correa H, Romano-Silva M A, Friedman E, Silva F F, Ribeiro P A, De Marco L
Abstract excerpt
Nephrogenic diabetes insipidus (NDI) is an inherited disorder characterized by renal resistance to the antidiuretic effect of arginine vasopressin (AVP), resulting in polyuria, polydipsia, and hypoosmolar urine. In the vast majority of cases, NDI is associated with germ-line mutations in the vasopressin receptor type 2 gene (AVPR2) and in about 8% of the cases with the water channel aquaporin-2 gene (AQP-2)...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Arginine Vasopressin
- Brazil
- Diabetes Insipidus, Nephrogenic
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Open Reading Frames