Associated Papers
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.
Sun HN et al.
Molecular Genetics & Genomic Medicine, 2025
39988772 (PubMed )
Supplement: MGG3-13-e70011-s001.xlsx › Sheet1
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
Yang Y et al.
Ophthalmic Genetics, 2015
Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.
Xu F et al.
Molecular Vision, 2012
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