Article
Urinary content of aquaporin 1 and 2 in nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN - 1 Jun 1996
Deen P M, van Aubel R A, van Lieburg A F, van Os C H
Abstract excerpt
Hereditary nephrogenic diabetes insipidus (NDI) is caused by mutations in either the X-chromosomal gene encoding the vasopressin V2-receptor or in the autosomal gene encoding aquaporin-2. Expressed in Xenopus oocytes, the AQP2 gene mutations found in NDl have been shown to reduce the stability of the encoded protein. This study investigated the in vivo stability of mutant and wild-type aquaporin-2 proteins by...
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