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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| 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 |