Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein. Several deep-intronic variants in ABCA4 have been classified as disease causing. By strengthening...

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Bibliografske podrobnosti
Main Authors: Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Format: Article
Jezik:English
Izdano: Elsevier 2022-09-01
Serija:Molecular Therapy: Nucleic Acids
Teme:
MT: RNA/DNA editing
ABCA4
Stargardt disease
STGD1
inherited retinal dystrophy
deep-intronic variants
Online dostop:http://www.sciencedirect.com/science/article/pii/S2162253122001925

Internet

http://www.sciencedirect.com/science/article/pii/S2162253122001925

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