Simple and complex retinal dystrophies are associated with profoundly different disease networks

Author:

Kiel Christina,Lastrucci Claire,Luthert Philip J.,Serrano Luis

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Reference57 articles.

1. Ayuso, C. & Millan, J. M. Retinitis pigmentosa and allied conditions today: a paradigm of translational research. Genome Med. 2, 34 (2010).

2. Sung, C. H., Schneider, B. G., Agarwal, N., Papermaster, D. S. & Nathans, J. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA. 88, 8840–8844 (1991).

3. Sung, C. H., Davenport, C. M. & Nathans, J. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. J. Biol. Chem. 268, 26645–26649 (1993).

4. Kaushal, S. & Khorana, H. G. Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry 33, 6121–6128 (1994).

5. Morimura, H. et al. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc. Natl. Acad. Sci. USA. 95, 3088–3093 (1998).

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