|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
|
22661473 |
2012 |
|
rs1800553
|
|
|
0.730 |
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 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
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 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
|
22025579 |
2011 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Loss of peripapillary sparing in non-group I Stargardt disease.
|
20696155 |
2010 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |
|
rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In these patients with Stargardt disease and a Gly1961Glu mutation, most showed a clinical phenotype characterized by fundus changes localized to the foveal and parafoveal regions, normal ERG amplitudes, absence of a silent or masked choroid, and a mean age at initial presentation in the third decade.
|
19578016 |
2009 |
|
rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
|
18024811 |
2007 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |