rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
1840561
1991
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.
7987326
1994
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
19960070
2009
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
8088850
1994
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
1302614
1992
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
8353500
1993
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
8081400
1994
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.
12566452
2003
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
2215617
1990
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
1391967
1992
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
1897520
1991
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
2239971
1990
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
7981701
1994
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
T
0.800
CausalMutation
CLINVAR
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
1985460
1991
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
2137202
1990
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.
7633434
1995
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
7987331
1994
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
8317502
1993
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
1833777
1991
rs104893781
×
Entrez Id:
6010
Gene Symbol:
RHO
RHO
Retinitis Pigmentosa 4
0.800
GeneticVariation
UNIPROT
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
8554077
1996