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

@article{Ouweland1992MutationsIT,
  title={Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus},
  author={Ans M. W. van den Ouweland and Jos C. F. M. Dreesen and Marian A. J. Verdijk and Nine V. V. A. M. Knoers and Leo Monnens and Mariano Rocchi and Bernard A. van Oost},
  journal={Nature Genetics},
  year={1992},
  volume={2},
  pages={99-102}
}
Nephrogenic diabetes insipidus (DIR) is an X–linked disorder characterized by insensitivity of the distal nephron for the pituitary hormone, vasopressin. The genetic map location of the DIR gene on chromosome Xq28 coincides with the physical map location of the functional vasopressin renal V2–type receptor. Recently, the human and rat cDNAs for the vasopressin V2 receptor (AVPR2) have been identified. We show here that the structural AVPR2 gene is localized between DXS52 and G6PD, which is… CONTINUE READING

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