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The vasopressin type 2 receptor gene. Chromosomal localization and its role in nephrogenic diabetes insipidus

✍ Scribed by Anita Seibold; Walter Rosenthal; Daniel G. Bichet; Mariel Birnbaumer


Book ID
119117942
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
332 KB
Volume
45
Category
Article
ISSN
0167-0115

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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