rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
|
26593885 |
2016 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
|
25712131 |
2015 |
rs61751374
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
|
15579991 |
2004 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
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
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
|
9466990 |
1998 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |