Article
Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
Nephron - 1 Jan 1997
Cheong H I, Park H W, Ha I S, Moon H N, Choi Y, Ko K W, Jun J K
Abstract excerpt
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the vasopressin V2 receptor (AVPR2) gene. We analyzed the AVPR2 gene in 6 unrelated Korean families with X-linked NDI, and found 6 novel mutations. Two of them were missense point mutations, 2 were short deleti...
Topics
- Adult
- Base Sequence
- DNA
- Diabetes Insipidus, Nephrogenic
- Electrophoresis, Agar Gel
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Receptors, Vasopressin