Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic <i>ABCA4</i> Variant c.4539+2001G&gt;A in Stargardt Disease

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic <i>ABCA4</i> Variant c.4539+2001G&gt;A in Stargardt Disease

Deep-sequencing of the <i>ABCA4</i> locus has revealed that ~10% of autosomal recessive Stargardt disease (STGD1) cases are caused by deep-intronic mutations. One of the most recurrent deep-intronic variants in the Belgian and Dutch STGD1 population is the c.4539+2001G&gt;A mutation....

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Bibliographic Details
Main Authors: Alejandro Garanto, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Rob W. J. Collin
Format: Article
Language:English
Published: MDPI AG 2019-06-01
Series:Genes
Subjects:
antisense oligonucleotides
Stargardt disease
inherited retinal diseases
splicing modulation
RNA therapy
ABCA4
iPSC-derived photoreceptor precursor cells
Online Access:https://www.mdpi.com/2073-4425/10/6/452

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https://www.mdpi.com/2073-4425/10/6/452

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