Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
Author:
Publisher
BMJ
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference94 articles.
1. A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999-2000 with 2009-2010;Liew;BMJ Open,2014
2. Effect of gene therapy on visual function in Leber’s congenital amaurosis;Bainbridge;N Engl J Med,2008
3. Safety and efficacy of gene transfer for Leber’s congenital amaurosis;Maguire;N Engl J Med,2008
4. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial;Hauswirth;Hum Gene Ther,2008
5. Leber congenital amaurosis;Perrault;Mol Genet Metab,1999
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