Large deletions in the polycystic kidney disease 1 (PKD1) gene.

  title={Large deletions in the polycystic kidney disease 1 (PKD1) gene.},
  author={Yavuz Ariyurek and Irma S Lantinga-van Leeuwen and Lia Spruit and David Ravine and Martijn H. Breuning and Dorien J. M. Peters},
  journal={Human mutation},
  volume={23 1},
Since identification of the genes mutated in patients with Autosomal Dominant Polycystic Kidney Disease, PKD1 and PKD2, a large number of different germ line mutations in both genes have been found by conventional PCR-based mutation detection methods. Nevertheless, in approximately 40% of the PKD1 families the disease-causing mutation remains to be elucidated. Complex germ line rearrangements are often not detectable by these standard diagnostic techniques. To detect large deletions in the PKD1… CONTINUE READING