Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease
Author:
Affiliation:
1. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
2. Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Publisher
Mary Ann Liebert Inc
Link
https://www.liebertpub.com/doi/pdf/10.1089/nat.2023.0076
Reference53 articles.
1. Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
2. Stargardt disease and progress in therapeutic strategies
3. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
4. Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration
5. Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
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1. Correction to: Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253 + 43G>A Underlying Stargardt Disease, by Nuria Suárez-Herrera et al., Nucleic Acid Ther 2024;34(2):73–82; doi: 10.1089/nat.2023.0076;Nucleic Acid Therapeutics;2024-08-01
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