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Human Mutation|December 19, 2001
Novel frameshift mutations in CRX associated with Leber congenital amaurosisC Rivolta, N E Peck, A B Fulton, et al.Investigative Ophthalmology & Visual Science|September 21, 2011
Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomeraseVera L Bonilha, Mary E Rayborn, Yong Li, et al.Proceedings of the National Academy of Sciences of the United States of America|April 18, 1998
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosisH Morimura, G A Fishman, S A Grover, et al.Investigative Ophthalmology & Visual Science|July 22, 2008
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A geneMichael A Sandberg, Bernard Rosner, Carol Weigel-DiFranco, et al.Investigative Ophthalmology & Visual Science|April 27, 2005
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226AsnYuko Wada, Michael A Sandberg, Terri L McGee, et al.Nature Genetics|June 1, 1992
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosaP J Rosenfeld, G S Cowley, T L McGee, et al.Proceedings of the National Academy of Sciences of the United States of America|October 24, 1995
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosaT P Dryja, J T Finn, Y W Peng, et al.Human Molecular Genetics|March 8, 2011
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosaGoranka Tanackovic, Adriana Ransijn, Philippe Thibault, et al.Cerebellum (London, England)|August 24, 2012
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathologyLaura C Horton, Matthew P Frosch, Mark G Vangel, et al.JAMA Ophthalmology|July 5, 2014
The relationship of central foveal thickness to urinary iodine concentration in retinitis pigmentosa with or without cystoid macular edemaMichael A Sandberg, Elizabeth N Pearce, Shyana Harper, et al.Pageof 22