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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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cddd2e0c77e44ce5a473e43acb5cf400

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

About this item

Full title

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

Publisher

London: BioMed Central Ltd

Journal title

Journal of translational medicine, 2023-08, Vol.21 (1), p.1-546, Article 546

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

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

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

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