Associated Papers
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Oishi A et al.
Genes, 2021
Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.
Conley S et al.
Investigative Ophthalmology & Visual Science, 2007
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.
Ding XQ et al.
Advances in Experimental Medicine and Biology, 2006
Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.
Iannaccone A
Documenta Ophthalmologica. Advances in Ophthalmology, 2001
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ et al.
Human Mutation, 1996
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