rs61751374
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
|
9466990 |
1998 |
rs61751374
|
|
|
0.820 |
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 |
rs61751374
|
|
|
0.820 |
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 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs61751374
|
|
|
0.820 |
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 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
|
10206579 |
1999 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
|
10634594 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
|
10746567 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
|
11379881 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
|
15579991 |
2004 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In order to further understand the contribution of this gene to the susceptibility to STGD and RP, we analyzed three unrelated STGD families and one autosomal recessive RP family specifically for the more common variants (A1038V, G1961E, 2588G-->C, R943Q or 2828G-->A) in the ABCA4 gene.
|
18506364 |
2008 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
|
18977788 |
2009 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |