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.
Zeitschrift:
Human Molecular Genetics

ISSN: 0964-6906,  1460-2083

Datum der Publikation: 2006

Ausgabe: 15

Nummer: 11

Seiten: 1847-1857

Art: Artikel

DOI: 10.1093/HMG/DDL107 GOOGLE SCHOLAR lock_openOpen Access editor
Datenquelle: Scopus