|
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 |
|
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 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
|
8554077 |
1996 |
|
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 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
|
7981701 |
1994 |
|
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 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
8088850 |
1994 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
|
8081400 |
1994 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
|
7987331 |
1994 |
|
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 |
|
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 |
|
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 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
|
1391967 |
1992 |
|
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 |
|
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 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
|
1833777 |
1991 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
|
1840561 |
1991 |
|
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 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
|
2137202 |
1990 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
2215617 |
1990 |
|
Retinitis Pigmentosa 4
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|