In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

  1. Chang, B.
  2. Khanna, H.
  3. Hawes, N.
  4. Jimeno, D.
  5. He, S.
  6. Lillo, C.
  7. Parapuram, S.K.
  8. Cheng, H.
  9. Scott, A.
  10. Hurd, R.E.
  11. Sayer, J.A.
  12. Otto, E.A.
  13. Attanasio, M.
  14. O'Toole, J.F.
  15. Jin, G.
  16. Shou, C.
  17. Hildebrandt, F.
  18. Williams, D.S.
  19. Heckenlively, J.R.
  20. Swaroop, A.
Journal:
Human Molecular Genetics

ISSN: 0964-6906 1460-2083

Year of publication: 2006

Volume: 15

Issue: 11

Pages: 1847-1857

Type: Article

DOI: 10.1093/HMG/DDL107 GOOGLE SCHOLAR lock_openOpen access editor