Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

Achromatopsia is an autosomal recessive cone photoreceptor disease that is frequently caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional analysis of 20 CNGA3 splice site variants detected in our large cohort of achromatopsia patients and/or listed in common var...

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Detalles Bibliográficos
Autores principales: Reuter, Peggy, Walter, Magdalena, Kohl, Susanne, Weisschuh, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938885/
https://www.ncbi.nlm.nih.gov/pubmed/36801918
http://dx.doi.org/10.1038/s41598-023-29452-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938885/
https://www.ncbi.nlm.nih.gov/pubmed/36801918
http://dx.doi.org/10.1038/s41598-023-29452-9

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