Article
Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Mar 1998
Calvo B, Bilbao J R, Urrutia I, Eizaguirre J, Gaztambide S, Castaño L
Abstract excerpt
Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disease caused by deficiency in the antidiuretic hormone arginine vasopressin (AVP) encoded by the AVP-neurophysin II (AVP-NPII) gene on chromosome 20p13. In this study, we analyzed two families with FNDI using direct automated fluorescent, solid phase, single-stranded DNA sequencing of PCR-amplified AVP-NPII DNA. In one of the families,...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Diabetes Insipidus
- Humans
- Male
- Mutation
- Neurophysins
- Pedigree
- Pituitary Diseases
- Pituitary Gland, Posterior
- Spain
- Vasopressins