Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator). Mutations in RPGRIP1 lead to autosomal recessive congenital blindness [Leber congenital amaurosis (LCA)]. Most LCA-associated missense mu...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Roepman, Ronald, Letteboer, Stef J. F., Arts, Heleen H., van Beersum, Sylvia E. C., Lu, Xinrong, Krieger, Elmar, Ferreira, Paulo A., Cremers, Frans P. M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2005
Onderwerpen:
Biological Sciences
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1317916/
https://ncbi.nlm.nih.gov/pubmed/16339905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0505774102
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items