|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
|
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
|
10634594 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
|
9503029 |
1998 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
|
10746567 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
|
24097981 |
2013 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
|
18977788 |
2009 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
Retinal Dystrophies
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
|
9490294 |
1998 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
|
28118664 |
2017 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
|
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |