Article
A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene.
The Journal of clinical endocrinology and metabolism - 1 May 1996
Ueta Y, Taniguchi S, Yoshida A, Murakami I, Mitani Y, Hisatome I, Manabe I, Sato R, Tsuboi M, Ohtahara A, Nanba E, Shigemasa C
Abstract excerpt
We studied the genetic basis of familial neurohypophyseal diabetes insipidus in a Japanese family. The members had polyuria and a deficiency of plasma vasopressin (AVP). Polymerase chain reaction (PCR) amplified exons of the AVP-neurophysin-II gene were subcloned and sequenced. Exons 1 and 3 were...
Topics
- Arginine Vasopressin
- Base Sequence
- Diabetes Insipidus
- Exons
- Female
- Humans
- Japan
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Neurophysins
- Pedigree
- Polymerase Chain Reaction