A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes
Author:
Funder
National Eye Institute
Foundation Fighting Blindness
Research to Prevent Blindness
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://insight.jci.org/articles/view/156154/files/pdf
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1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
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3. Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
4. In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases
5. The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease
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