Identification and Functional Characterization of ABCA4 Gene Variants in Three Patients with Stargardt Disease or Retinitis Pigmentosa

Qi Luo,Juan Huang, Lu Shi, Guanghong Zhang, Linping Xue, Kehu Wu, Xiaoyu Li,Lei Yang, Dujun Li, Liangwei Mao, Jihong Luo

Frontiers in Genetics（2025）

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ABCA4 gene,inherited retinal dystrophy,whole-exome sequencing,minigene assay,Stargardt disease,retinitis pigmentosa

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