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Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
The gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) have both been localized in the Xqter region by genetic mapping and functional expression studies, respectively. In this paper genetic evidence that the DIR locus is localized distal to the DXS305 locus and that the functional gene for the V2 receptor is localized between the markers DXS269 and F8 is presented. These further refinements in the localization of both genes strengthen the assumption that both genes are identical and provide a rationale for cloning the gene by reversed genetics strategies.
PMID: 1324225 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.
Bichet DG, Arthus MF, Lonergan M, Hendy GN, Paradis AJ, Fujiwara TM, Morgan K, Gregory MC, Rosenthal W, Didwania A.
J Clin Invest. 1993 Sep; 92(3):1262-8.
[J Clin Invest. 1993]
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Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M.
J Clin Invest. 1995 Oct; 96(4):2043-50.
[J Clin Invest. 1995]
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X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.
Bichet DG, Hendy GN, Lonergan M, Arthus MF, Ligier S, Pausova Z, Kluge R, Zingg H, Saenger P, Oppenheimer E.
Am J Hum Genet. 1992 Nov; 51(5):1089-1102.
[Am J Hum Genet. 1992]