Different functional outcome of RetGC1 and RPE65 gene mutations in leber congenital amaurosis [5]
โ Scribed by Perrault, I. (author);Rozet, J. M. (author);Ghazi, I. (author);Leowski, C. (author);Bonnemaison, M. (author);Gerber, S. (author);Ducroq, D. (author);Cabot, A. (author);Souied, E. (author);Dufier, J. L. (author);Munnich, A. (author);Kaplan, J. (author)
- Book ID
- 117852782
- Publisher
- University of Chicago Press
- Year
- 1999
- Tongue
- English
- Weight
- 308 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302335
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Leber congenital amaurosis (LCA) is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have s
Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore t