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Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.

Nephrogenic diabetes insipidus (NDI) is most often an X-linked disorder in which urine is not concentrated due to renal resistance to arginine vasopressin. We recently identified four vasopressin type 2 receptor gene mutations in unrelated X-linked NDI families, including R143P, delta V278, R202C, a...

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Udgivet i:J Clin Invest
Principais autores: Tsukaguchi, H, Matsubara, H, Taketani, S, Mori, Y, Seido, T, Inada, M
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1995
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC185843/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7560098/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118252
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