Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis

Author:

Avila-Fernandez Almudena,Corton Marta,Nishiguchi Koji M.,Muñoz-Sanz Nelida,Benavides-Mori Belen,Blanco-Kelly Fiona,Riveiro-Alvarez Rosa,Garcia-Sandoval Blanca,Rivolta Carlo,Ayuso Carmen

Publisher

Elsevier BV

Subject

Ophthalmology

Reference28 articles.

1. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies;Den Hollander;J Clin Invest,2010

2. Retinitis pigmentosa in Spain;Ayuso;Clin Genet,1995

3. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait;Wright;Nat Rev Genet,2010

4. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa;Pierce;Nat Genet,1999

5. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors;Liu;Invest Ophthalmol Vis Sci,2002

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