Article
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Experimental eye research - 1 Dec 2022
Huang Di, Thompson Jennifer A, Chen Shang-Chih, Adams Abbie, Pitout Ianthe, Lima Alanis, Zhang Dan, Jeffery Rachael C Heath, Attia Mary S, McLaren Terri L, Lamey Tina M, De Roach John N, McLenachan Samuel, Aung-Htut May Thandar, Fletcher Sue, Wilton Steve D, Chen Fred K
Abstract excerpt
The ATP-binding cassette subfamily A member 4 gene (ABCA4)-associated retinopathy, Stargardt disease, is the most common monogenic inherited retinal disease. Given the pathogenicity of numerous ABCA4 variants is yet to be examined and a significant proportion (more than 15%) of ABCA4 variants are categorized as splice variants in silico, we therefore established a fibroblast-based splice assay to analyze ABCA4...
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