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Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

BACKGROUND: ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined. Antisense oligonucleotides (AONs) have been investigated in Usher syndrome-associated genes to ind...

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Detalles Bibliográficos
Autores principales:	Kaltak, Melita, Blanco-Garavito, Rocio, Molday, Laurie L., Dhaenens, Claire-Marie, Souied, Eric E., Platenburg, Gerard, Swildens, Jim, Molday, Robert S., Cremers, Frans P. M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10428568/ https://www.ncbi.nlm.nih.gov/pubmed/37587475 http://dx.doi.org/10.1186/s12967-023-04406-x

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