Article
Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
Human mutation - 1 Jan 1999
Rocha J L, Friedman E, Boson W, Moreira A, Figueiredo B, Liberman B, de Lacerda L, Sandrini R, Graf H, Martins S, Puñales M K, De Marco L
Abstract excerpt
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 individuals with normal structural genes. We analyzed both genes in five Brazilian families and the aquaporin-2 gene in two...
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