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Stargardt disease and progress in therapeutic strategies.
Huang D, Heath Jeffery RC, Aung-Htut MT, McLenachan S, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Ophthalmic Genet. 2022 Feb;43(1):1-26. doi: 10.1080/13816810.2021.1966053. Epub 2021 Aug 29. Ophthalmic Genet. 2022. PMID: 34455905 Free article. Review.
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. 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.
33 results