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Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

✍ Scribed by van den Ouweland, Ans M.W.; Dreesen, Jos C.F.M.; Verdijk, Marian; Knoers, Nine V.A.M.; Monnens, Leo A.H.; Rocchi, Mariano; van Oost, Bernard A.

Book ID: 109918206
Publisher: Nature Publishing Group
Year: 1992
Tongue: English
Weight: 697 KB
Volume: 2
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1092-99

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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