Article
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes.
Molecular endocrinology (Baltimore, Md.) - 1 Nov 1997
Sadeghi H, Robertson G L, Bichet D G, Innamorati G, Birnbaumer M
Abstract excerpt
Biochemical properties of mutant type 2 vasopressin receptors (V2Rs) causing a partial phenotype of nephrogenic diabetes insipidus were investigated in transiently transfected HEK 293 cells. Cell surface expression of the V2R was not altered by substituting Asp85 in the second transmembrane regio...
Topics
- Amino Acid Substitution
- Cell Line
- Diabetes Insipidus, Nephrogenic
- Humans
- Phenotype
- Point Mutation
- Receptors, Vasopressin