Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

The discovery of novel intronic variants in the ABCA4 locus has contributed significantly to solving the missing heritability in Stargardt disease (STGD1). The increasing number of variants affecting pre-mRNA splicing makes ABCA4 a suitable candidate for antisense oligonucleotide (AON)-based splicin...

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Detalles Bibliográficos
Autores principales: Tomkiewicz, Tomasz Z., Suárez-Herrera, Nuria, Cremers, Frans P. M., Collin, Rob W. J., Garanto, Alejandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8124656/
https://www.ncbi.nlm.nih.gov/pubmed/33924840
http://dx.doi.org/10.3390/ijms22094621

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8124656/
https://www.ncbi.nlm.nih.gov/pubmed/33924840
http://dx.doi.org/10.3390/ijms22094621

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