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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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Vydáno v:Int J Mol Sci
Hlavní autoři: Tomkiewicz, Tomasz Z., Suárez-Herrera, Nuria, Cremers, Frans P. M., Collin, Rob W. J., Garanto, Alejandro
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8124656/
https://ncbi.nlm.nih.gov/pubmed/33924840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22094621
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