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A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1

Abstract:

Background: Gene editing has shown huge potential in correcting aberrant splicing and Cas13 has been identified as being particularly suitable for targeting RNA. It has therefore become increasingly important to highlight new splice site mutations that may be correctable, particularly in genes that are too large to be encoded by AAV vectors. About 20% of Usher Type 1 cases are caused by mutations in CDH23.
Purpose: To report a novel splice site ... Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Oxford college:
Merton College
Role:
Author
ORCID:
0000-0002-0424-5852
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Department of Health More from this funder
Publisher:
Taylor & Francis Publisher's website
Journal:
Ophthalmic Genetics Journal website
Volume:
40
Issue:
6
Pages:
545-548
Place of publication:
England
Publication date:
2019-11-22
Acceptance date:
2019-11-02
DOI:
EISSN:
1744-5094
ISSN:
1381-6810
Pmid:
31755791
Language:
English
Keywords:
Pubs id:
1073729
Local pid:
pubs:1073729
Deposit date:
2020-07-09

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