Identification and Analysis of Inherited Retinal Disease Genes
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Publisher
Humana Press
Link
http://link.springer.com/content/pdf/10.1007/978-1-62703-080-9_1
Reference76 articles.
1. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA et al (1985) Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230:1350–1354
2. Berger W, Kloeckener-Gruissem B, Neidhardt J (2010) The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 29:335–375
3. den Hollander AI, Black A, Bennett J, Cremers FPM (2010) Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest 120:3042–3053
4. Valle D, Kaiser-Kupfer MI, Del Valle LA (1977) Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. Proc Natl Acad Sci U S A 74:5159–5161
5. Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C et al (1988) An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 81:630–633
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