Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease
Abstract Background Stargardt disease type 1 (STGD1) is a progressive retinal disorder caused by bi-allelic variants in the ABCA4 gene. A recurrent variant at the exon-intron junction of exon 6, c.768G>T, causes a 35-nt elongation of exon 6 that leads to premature termination of protein synthesis. M...
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| Egile Nagusiak: | , , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Nature Portfolio
2025-01-01
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| Saila: | Communications Medicine |
| Sarrera elektronikoa: | https://doi.org/10.1038/s43856-024-00712-7 |
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