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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

โœ Scribed by van den Ouweland, A.M.W.; Knoop, M.T.; Knoers, V.V.A.M.; Markslag, P.W.B.; Rocchi, M.; Warren, S.T.; Ropers, H.H.; Fahrenholz, F.; Monnens, L.A.H.; van Oost, B.A.


Book ID
121339472
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
337 KB
Volume
13
Category
Article
ISSN
0888-7543

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Nephrogenic diabetes insipidus (NDI) is associated with germline mutations in two genes: vasopressin receptor type 2 (V2(R)) in X-linked NDI, and the water channel aquaporin-2, in autosomal-recessive disease. Genetic heterogeneity is further emphasized by reports of phenotypically abnormal individua