Article
Functional characterization of five V2 vasopressin receptor gene mutations.
Molecular and cellular endocrinology - 29 Nov 1996
Wenkert D, Schoneberg T, Merendino J J, Rodriguez Pena M S, Vinitsky R, Goldsmith P K, Wess J, Spiegel A M
Abstract excerpt
COS7 cells were transiently transfected with plasmids encoding mutant forms of the V2 vasopressin receptors corresponding to mutations [Y280C, L292P, R337stop, V277A, and G12E (the latter found in the same kindred with L292P)] recently identified in subjects with X-linked nephrogenic diabetes insipidus (NDI). cAMP response to dDAVP and AVP, saturation binding experiments with [3H]-AVP, immunofluorescence, and...
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