Article
Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 May 1994
Rosenthal W, Seibold A, Antaramian A, Gilbert S, Birnbaumer M, Bichet D G, Arthus M F, Lonergan M
Abstract excerpt
Nephrogenic diabetes insipidus (NDI) is characterized by a resistance of the kidney towards arginine vasopressin (AVP). Following molecular cloning of the vasopressin V2 receptor, we identified different mutations in the V2 receptor gene in families with X-linked NDI, which segregated with the disease. The Hopewell mutation (W71X) causes the disease in the largest North American NDI pedigree, with most of its...
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