Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

@article{Park2003IdentificationO5,
  title={Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.},
  author={Walter D Park and John F. O'Brien and Patrick A Lundquist and Daniel L. Kraft and Cate M Walsh Vockley and Pamela S. Karnes and Marc C. Patterson and Karen Snow},
  journal={Human mutation},
  year={2003},
  volume={22 4},
  pages={313-25}
}
The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC1 and NPC2 (HE1) gene products are intimately involved in cholesterol and glycolipid trafficking and/or transport. We describe mutation analysis on samples from 143 unrelated affected NPC patients using conformation sensitive gel electrophoresis and DNA sequencing as the primary mutation screening methods for NPC1 and NPC2, respectively. These methods are… CONTINUE READING