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Article

An X-linked NDI mutation reveals a requirement for cell surface V2R expression.

Molecular endocrinology (Baltimore, Md.) - 1 Jun 1997

Sadeghi H M, Innamorati G, Birnbaumer M

Abstract excerpt

Function and biochemical properties of the V2 vasopressin receptor (V2R) mutant R337ter, identified in patients suffering from X-linked recessive nephrogenic diabetes insipidus, were investigated by expression in COS.M6 or HEK293 cells. Binding assays and measurements of adenylyl cyclase activity failed to detect function for the truncated receptor, although metabolic labeling demonstrated normal levels of...

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PMID: 9171234
DOI: 10.1210/mend.11.6.9919

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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