Article
Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Apr 1995
Nagasaki H, Ito M, Yuasa H, Saito H, Fukase M, Hamada K, Ishikawa E, Katakami H, Oiso Y
Abstract excerpt
Familial central diabetes insipidus is an autosomal dominant disease caused by a deficiency of arginine vasopressin (AVP). We previously reported three distinct mutations in the AVP gene in Japanese familial central diabetes insipidus pedigrees that result in a substitution of Ser for Gly57 in the neurophysin-II (NPII) moiety of the AVP precursor, a substitution of Thr for Ala at the COOH-terminus of the signal...
Topics
- Adolescent
- Adult
- Arginine Vasopressin
- Base Sequence
- DNA
- Diabetes Insipidus
- Female
- Heterozygote
- Humans
- Male
- Middle Aged