Associated Papers
Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.
Oh JK et al.
Scientific Reports, 2020
32488013 (PubMed )
Supplement: 41598_2020_65763_MOESM1_ESM.pdf
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
Rio Frio T et al.
Human Molecular Genetics, 2008
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
Rio Frio T et al.
The Journal of Clinical Investigation, 2008
Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.
Liu JY et al.
Biochemical and Biophysical Research Communications, 2008
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
Rivolta C et al.
Human Mutation, 2006
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Li A et al.
American Journal of Human Genetics, 2004
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