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Article

ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.

Investigative ophthalmology & visual science - 2 Jan 2025

Wang Yingwei, Wang Pangfeng, Yi Zhen, Ouyang Jiamin, Jiang Yi, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Hejtmancik James Fielding, Sun Wenmin, Zhang Qingjiong

Abstract excerpt

Purpose: The purpose of this study was to investigate the contribution and natural progression of ABCA4 deep intronic variants (DIVs) among a Chinese Stargardt disease (STGD) cohort. Methods: For unsolved STGD probands, DIVs in ABCA4 were detected by next-generation sequencing, and splicing effects were evaluated by in silico tools and validated through minigene experiments. Comprehensive ocular examinations,...

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Identifiers

PMID: 39883546
DOI: 10.1167/iovs.66.1.65
PMCID: PMC11781324

Genes

ABCA4
RPE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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