Associated Papers
Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue.
Rodrigues A et al.
Npj Regenerative Medicine, 2022
35974011 (PubMed )
Supplement: 41536_2022_235_MOESM2_ESM.zip › Other_Supplementary_materials › Data_S6.xlsx › Mutation_screening_primer
Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.
Yang C et al.
Frontiers in Cell and Developmental Biology, 2021
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.
Terray A et al.
Stem Cell Research, 2017
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
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