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.
Revista:
Human Molecular Genetics

ISSN: 0964-6906 1460-2083

Ano de publicación: 2006

Volume: 15

Número: 11

Páxinas: 1847-1857

Tipo: Artigo

DOI: 10.1093/HMG/DDL107 GOOGLE SCHOLAR lock_openAcceso aberto editor