Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in ABCA4-associated inherited retinal diseases, necessitating functional validation for their pathological classification. Typically, minigene assays in HEK293(T) can qualitatively assess splicing defect...

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Main Authors: Pietro De Angeli (Author), Arturo Flores-Tufiño (Author), Katarina Stingl (Author), Laura Kühlewein (Author), Eleonora Roschi (Author), Bernd Wissinger (Author), Susanne Kohl (Author)
Format: Book
Published: Elsevier, 2024-03-01T00:00:00Z.
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