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
37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.xlsx › Sheet1
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
34411390 (PubMed )
Supplement: HUMU-42-1521-s005.xlsx › All_PRPH2_variants
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI et al.
Orphanet Journal of Rare Diseases, 2016
27628848 (PubMed )
Supplement: 13023_2016_505_MOESM1_ESM.pdf
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Stuck MW et al.
Progress in Retinal and Eye Research, 2016
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
Ekström U et al.
Ophthalmic Genetics, 1998
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
Ekström U et al.
Ophthalmic Genetics, 1998
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
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
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Kajiwara K et al.
Nature, 1991
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