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Article

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.

Investigative ophthalmology & visual science - 1 Sept 2023

Sajovic Jana, Meglic Andrej, Corradi Zelia, Khan Mubeen, Maver Aleš, Vidmar Martina Jarc, Hawlina Marko, Cremers Frans P M, Fakin Ana

Abstract excerpt

Purpose: To determine the disease pathogenesis associated with the frequent ABCA4 variant c.5714+5G>A (p.[=,Glu1863Leufs*33]). Methods: Patient-derived photoreceptor precursor cells were generated to analyze the effect of c.5714+5G>A on splicing and perform a quantitative analysis of c.5714+5G>A products. Patients with c.5714+5G>A in trans with a null allele (i.e., c.5714+5G>A patients; n = 7) were compared with...

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Identifiers

PMID: 37728905
DOI: 10.1167/iovs.64.12.33
PMCID: PMC10516765

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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