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Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus

✍ Scribed by N. Marr; E.J. Kamsteeg; M. van Raak; C.H van Os; P.M.T. Deen

Publisher
Springer
Year
2001
Tongue
English
Weight
99 KB
Volume
442
Category
Article
ISSN
0031-6768

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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