Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

@article{Pan1992MutationsIT,
  title={Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus},
  author={Yang Pan and Aida Metzenberg and Soma Das and Biqi Jing and Jane Gitschier},
  journal={Nature Genetics},
  year={1992},
  volume={2},
  pages={103-106}
}
X–linked nephrogenic diabetes insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. It has been proposed that the kidney–specific V2 vasopressin receptor, a G protein–coupled receptor, is defective in this disorder as both the disease and the receptor map to Xq28. We report six unique mutations in the V2 receptor gene of five unrelated NDI patients, with one patient having two mutations. The most severely affected patient has a nonsense… CONTINUE READING
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