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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.
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Huang D, Zhang D, Chen SC, Thandar Aung-Htut M, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Fletcher S, Wilton SD, McLenachan S, Chen FK. Huang D, et al. Stem Cell Res. 2021 Jul;54:102439. doi: 10.1016/j.scr.2021.102439. Epub 2021 Jun 24. Stem Cell Res. 2021. PMID: 34214897 Free article.
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 Review.
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