Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
Author:
Funder
Foundation Fighting Blindness
European Commission
Retina UK
National Eye Institute
Publisher
Elsevier BV
Subject
Sensory Systems,Ophthalmology
Reference290 articles.
1. Gene therapy restores vision in a canine model of childhood blindness;Acland;Nat. Genet.,2001
2. Fundus-driven perimetry (microperimetry) compared to conventional static automated perimetry: similarities, differences, and clinical applications;Acton;Can. J. Ophthalmol.,2013
3. Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids;Agbaga;Proc. Natl. Acad. Sci. U. S. A.,2008
4. Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors;Aguirre-Lamban;Invest. Ophthalmol. Vis. Sci.,2011
5. Purification and characterization of ABCR from bovine rod outer segments;Ahn;Methods Enzymol.,2000
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