The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference45 articles.
1. Fundus flavimaculatus;Blacharski,1988
2. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat Genet,1997
3. In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 retinal dystrophy cases;Cornelis;Hum Mutat,2017
4. Structural and genetic assessment of the ABCA4-associated optical gap phenotype;Noupuu;Invest Ophthalmol Vis Sci,2014
5. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy;Cella;Exp Eye Res,2009
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