Article
A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus.
Clinical endocrinology - 1 Jan 1996
Rauch F, Lenzner C, Nürnberg P, Frömmel C, Vetter U
Abstract excerpt
OBJECTIVE: Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is a rare cause of diabetes insipidus, in which AVP serum levels are insufficient. AVP is synthesized along with neurophysin-II (NPII) as an AVP-NPII precursor polypeptide in the hypothalamus. After proteolytic cleavage dur...
Topics
- Base Sequence
- Child
- DNA Primers
- Diabetes Insipidus
- Exons
- Female
- Genes, Dominant
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Neurophysins
- Pedigree
- Polymerase Chain Reaction
- Restriction Mapping
- Sequence Analysis, DNA