Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
✍ Scribed by Isabelle Perrault; Nathalie Delphin; Sylvain Hanein; Sylvie Gerber; Jean-Louis Dufier; Olivier Roche; Sabine Defoort-Dhellemmes; Hélène Dollfus; Elisa Fazzi; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
- Book ID
- 111700385
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 218 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1059-7794
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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
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