A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

Sylla, M. M., Kolesinkova, M., da Costa, B. L., Maumenee, I. H., Tsang, S. H., & Quinn, P. M. J. (2023). A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. Documenta Ophthalmologica, 147(3), 217–224. https://doi.org/10.1007/s10633-023-09951-w
Authors:
Mohamed M Sylla
Masha Kolesinkova
Bruna Lopes da Costa
Irene H Maumenee
Stephen H Tsang
Peter M J Quinn
Affiliated Authors:
Mohamed M Sylla
Masha Kolesinkova
Bruna Lopes da Costa
Irene H Maumenee
Stephen H Tsang
Peter M J Quinn
Columbia Affiliation:
Subjects:
Leber Congenital Amaurosis (MeSH)
Author Keywords:
full-field electroretinography
gene therapy
genotype–phenotype correlation
leber congenital amaurosis
novel crb1 variant
prime editing
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Publication Type:
Article
Unique ID:
10.1007/s10633-023-09951-w
PMID:
37804373
DOI:
10.1007/s10633-023-09951-w
Journal:
Documenta Ophthalmologica
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: