|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
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)
|
|
0.800 |
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)
|
|
0.800 |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
|
10634594 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
|
10746567 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
|
10206579 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
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)
|
|
0.800 |
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)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|