Article
Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.
The Journal of clinical endocrinology and metabolism - 1 Sept 1993
McLeod J F, Kovács L, Gaskill M B, Rittig S, Bradley G S, Robertson G L
Abstract excerpt
We studied the pathophysiology, natural history, and genetic basis of familial neurohypophyseal diabetes insipidus (FNDI) in a caucasian kindred. Twelve members had polyuria and a deficiency of plasma vasopressin (AVP), which progressed in severity over time. Another had normal urine volumes and...
Topics
- Adolescent
- Adult
- Arginine Vasopressin
- Base Sequence
- Child
- Child, Preschool
- Diabetes Insipidus
- Exons
- Female
- Humans
- Infant
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Neurophysins
- Osmolar Concentration
- Pedigree