Article
Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 May 2002
Bullmann C, Kotzka J, Grimm T, Heppner C, Jockenhövel F, Krone W, Müller-Wieland D
Abstract excerpt
Familial central diabetes insipidus is an inherited disease of predominant autosomal dominant trait characterized by a deficiency of arginine vasopressin. The arginine vasopressin-neurophysin II ( AVP-NPII) gene consists of three exons and is located on chromosome 20p13 encoding for the precursor protein of AVP. We investigated two Caucasian families with a typical autosomal dominant trait of familial central...
Topics
- Adult
- Age of Onset
- Amino Acid Sequence
- Arginine Vasopressin
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 20
- Codon, Terminator
- Diabetes Insipidus, Neurogenic
- Exons
- Family
- Female
- Humans