|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
|
19960070 |
2009 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.
|
12566452 |
2003 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
|
8554077 |
1996 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
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 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
|
7987331 |
1994 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
|
8081400 |
1994 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
|
7981701 |
1994 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
8088850 |
1994 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.
|
7987326 |
1994 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
|
8317502 |
1993 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
|
8353500 |
1993 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
|
1302614 |
1992 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
|
1391967 |
1992 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
|
1833777 |
1991 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
|
1840561 |
1991 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
|
1897520 |
1991 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
|
1985460 |
1991 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
|
2239971 |
1990 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
|
2137202 |
1990 |
|
Retinitis Pigmentosa 4
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
2215617 |
1990 |
|
Retinitis Pigmentosa
|
|
0.010 |
GeneticVariation
|
BEFREE |
Together, our results suggest that the RP pathology associated with the expression of the V209M and F220C mutants could arise from defects in folding and cellular trafficking rather than the disruption of dimerization, as has been previously proposed.
|
30085663 |
2018 |