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Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease
Deep-sequencing of the ABCA4 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>A mutation. This variant introduce...
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| Publicado en: | Genes (Basel) |
|---|---|
| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
MDPI
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6628380/ https://ncbi.nlm.nih.gov/pubmed/31197102 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10060452 |
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