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Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Huang D, Thompson JA, Chen SC, Adams A, Pitout I, Lima A, Zhang D, Jeffery RCH, Attia MS, McLaren TL, Lamey TM, De Roach JN, McLenachan S, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Among authors: adams a. Exp Eye Res. 2022 Dec;225:109276. doi: 10.1016/j.exer.2022.109276. Epub 2022 Oct 6. Exp Eye Res. 2022. PMID: 36209838 Free article.
Multiple exon skipping strategies to by-pass dystrophin mutations.
Adkin CF, Meloni PL, Fletcher S, Adams AM, Muntoni F, Wong B, Wilton SD. Adkin CF, et al. Neuromuscul Disord. 2012 Apr;22(4):297-305. doi: 10.1016/j.nmd.2011.10.007. Epub 2011 Dec 17. Neuromuscul Disord. 2012. PMID: 22182525 Free PMC article.
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang D, Thompson JA, Charng J, Chelva E, McLenachan S, Chen SC, Zhang D, McLaren TL, Lamey TM, Constable IJ, De Roach JN, Aung-Htut MT, Adams A, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Among authors: adams a. Mol Genet Genomic Med. 2020 Jul;8(7):e1259. doi: 10.1002/mgg3.1259. Epub 2020 Apr 23. Mol Genet Genomic Med. 2020. PMID: 32627976 Free PMC article.
3,220 results