Associated Papers
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
33598457 (PubMed )
Supplement: Data_Sheet_1.XLSX › sheet_1
A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.
Zheng Y et al.
International Journal of Ophthalmology, 2018
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Comander J et al.
Genes, 2017
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Rose AM et al.
Scientific Reports, 2016
26781568 (PubMed )
Supplement: srep19450-s1.pdf
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.
Yoon CK et al.
Bmc Genomics, 2015
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.
Liu JY et al.
Biochemical and Biophysical Research Communications, 2008
A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Xia K et al.
Molecular Vision, 2004
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