Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts

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.

Exp Eye Res. 2022 Oct 6:109276. doi: 10.1016/j.exer.2022.109276. Online ahead of print.

PMID: 36209838

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