Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus
✍ Scribed by Alexander Oksche; Andreas Möller; John Dickson; Werner Rosendahl; Wolfgang Rascher; Daniel G. Bichet; W. Rosenthal
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 40 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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Nephrogenic diabetes insipidus (NDI) is a rare, mostly X-linked recessive disorder characterized by renal tubular resistance to the antidiuretic effect of arginine vasopressin. The gene responsible for the X-linked NDI, the G-protein-coupled vasopressin V2 receptor, has been localized on the Xq28 re
Nephrogenic diabetes insipidus (NDI) is associated with germline mutations in two genes: vasopressin receptor type 2 (V2(R)) in X-linked NDI, and the water channel aquaporin-2, in autosomal-recessive disease. Genetic heterogeneity is further emphasized by reports of phenotypically abnormal individua
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