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 nucleotide 1095, predictive for a substitution of serine 167 (which is highly conserved among G-protein-coupled receptors), by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.