Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Abstract excerpt

Mutations in the AVPR2 gene encoding the receptor for arginine vasopressin in the kidney (V2 ADHR) have been reported in patients with congenital nephrogenic diabetes insipidus, a predominantly X-linked disorder of water homeostasis. We have used restriction-enzyme analysis and direct DNA sequencing of genomic PCR product to evaluate the AVPR2 gene in 11 unrelated affected males. Each patient has a different DNA...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Molecular Sequence Data
• Share to Base Sequence
• Share to DNA Mutational Analysis