Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis
β Scribed by Bainbridge, James W.B.; Smith, Alexander J.; Barker, Susie S.; Robbie, Scott; Henderson, Robert; Balaggan, Kamaljit; Viswanathan, Ananth; Holder, Graham E.; Stockman, Andrew; Tyler, Nick; Petersen-Jones, Simon; Bhattacharya, Shomi S.; Thrasher, Adrian J.; Fitzke, Fred W.; Carter, Barrie J.; Rubin, Gary S.; Moore, Anthony T.; Ali, Robin R.
- Book ID
- 118135173
- Publisher
- Massachusetts Medical Society
- Year
- 2008
- Tongue
- English
- Weight
- 717 KB
- Volume
- 358
- Category
- Article
- ISSN
- 0096-6762
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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