Article
Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.
Biochemical and biophysical research communications - 30 Nov 1994
Oksche A, Dickson J, Schülein R, Seyberth H W, Müller M, Rascher W, Birnbaumer M, Rosenthal W
Abstract excerpt
Families with congenital nephrogenic diabetes insipidus were analyzed with regard to mutations in the vasopressin V2 receptor gene. Family 1 shows an X-chromosomal recessive inheritance of the disease over 4 generations. A patient from this family was found to have a T-->A transversion at nucleot...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- Diabetes Insipidus, Nephrogenic
- Dosage Compensation, Genetic
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation