STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
|
28181551 |
2017 |
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 |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
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 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
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 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
BEFREE |
There seems to be at least two different origins for the common C1490Y mutation, as well as two for the R602W mutation, thereby suggesting several founder effects for STGD in SA.
|
15161829 |
2004 |
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 |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
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 |
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
|
10746567 |
2000 |
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 |
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 |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
|
10090887 |
1999 |
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 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
|
10206579 |
1999 |
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 |
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 |
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 |