Article
Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Feb 1998
Heppner C, Kotzka J, Bullmann C, Krone W, Müller-Wieland D
Abstract excerpt
Familial central diabetes insipidus is transmitted as an autosomal dominant trait with almost complete penetrance. Twenty-three different mutations of the arginine vasopressin-neurophysin II gene have been reported to date, located within the signal peptide-, the arginine vasopressin-, or the neu...
Topics
- Arginine Vasopressin
- Base Sequence
- Diabetes Insipidus
- Female
- Heterozygote
- Humans
- Male
- Mutation
- Neurophysins
- Pedigree
- Polymerase Chain Reaction
- Sequence Analysis, DNA