Article
A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Aug 1994
Repaske D R, Browning J E
Abstract excerpt
The molecular basis of autosomal dominant neurohypophyseal diabetes insipidus, a hereditary deficiency of vasopressin, was determined by nucleotide sequence analysis of the arginine vasopressin-neurophysin-II gene. A C-->T mutation at nucleotide 1761 was detected in one allele of this gene in eac...
Topics
- Amino Acid Sequence
- Arginine Vasopressin
- Base Sequence
- Child, Preschool
- Chromosomes, Human, Pair 20
- Diabetes Insipidus
- Exons
- Female
- Humans
- Leucine
- Molecular Sequence Data
- Mutation
- Neurophysins
- Pedigree
- Pituitary Gland, Posterior
- Polymerase Chain Reaction
- Proline
- Repetitive Sequences, Nucleic Acid