Associated Papers
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
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
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
Becirovic E et al.
Plos Genetics, 2016
26796962 (PubMed )
Supplement: pgen.1005811.s007.xlsx › Tabelle1
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
de Sousa Dias M et al.
Molecular Vision, 2015
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
Stuck MW et al.
Human Molecular Genetics, 2014
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
de Sousa Dias M et al.
Molecular Vision, 2013
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Gamundi MJ et al.
Molecular Vision, 2007
The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice.
Stricker HM et al.
The Biochemical Journal, 2005
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.
Trujillo MJ et al.
Human Mutation, 2001
Select a paper to view details