Associated Papers
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
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2.
Ba-Abbad R et al.
Ophthalmic Genetics, 2019
Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
Grover S et al.
Ophthalmology, 2002
Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.
Iannaccone A
Documenta Ophthalmologica. Advances in Ophthalmology, 2001
In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations.
Cideciyan AV
Methods in Enzymology, 2000
Transgenic analysis of rds/peripherin N-glycosylation: effect on dimerization, interaction with rom1, and rescue of the rds null phenotype.
Kedzierski W et al.
Journal of Neurochemistry, 1999
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS.
Nakazawa M et al.
Current Eye Research, 1997
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U et al.
Human Mutation, 1997
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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