×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
26796962
2016
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
Next-generation genetic testing for retinitis pigmentosa.
22334370
2012
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
19038374
2009
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
16799052
2006
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.
11485765
2001
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.
10627133
1998
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
7862413
1995
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
8020945
1994
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
1427912
1992
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
1684223
1991
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.910
GeneticVariation
disease
UNIPROT
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.
1749427
1991