Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
About this item
Full title
Author / Creator
Publisher
London: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 induce skipping of in-frame exons carrying severe vari...
Alternative Titles
Full title
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cddd2e0c77e44ce5a473e43acb5cf400
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cddd2e0c77e44ce5a473e43acb5cf400
Other Identifiers
ISSN
1479-5876
E-ISSN
1479-5876
DOI
10.1186/s12967-023-04406-x