V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

@article{Schneberg1998V2VR,
  title={V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.},
  author={Torsten Sch{\"o}neberg and Angela Schulz and Heike Biebermann and Annette Grueters and Tiemo Grimm and Karel H{\"u}bschmann and Guido Filler and Thomas Gudermann and Guenter Schultz},
  journal={Human mutation},
  year={1998},
  volume={12 3},
  pages={196-205}
}
Loss-of-function mutations in the V2 vasopressin receptor (AVPR2) gene have been identified as a molecular basis for X-linked nephrogenic diabetes insipidus (NDI). Herein, we describe a novel deletion mutation at nucleotide position 102 (delG102) found in a Russian family resulting in a frameshift and a truncated receptor protein. Furthermore, we analyzed the AVPR2 gene of two other unrelated boys with NDI from our patient clientele. These patients showed previously described mutations (R137H… CONTINUE READING

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