|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
|
22229821 |
2012 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
ABCA4 gene screening by next-generation sequencing in a British cohort.
|
23982839 |
2013 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Most patients harbored at least one mutation classified as "severe," the most common of which was the p.N965S variant that had been found previously at a high frequency among patients with ABCA4-associated retinal dystrophies in Denmark.
|
24713488 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
|
25066811 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
|
23918662 |
2013 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In this study, we demonstrate the spectrum of retinal dystrophies associated with ABCA4 gene mutations.
|
15614537 |
2005 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
|
26593885 |
2016 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Subsequent studies have shown that mutations in ABCA4 can also cause a variety of other retinal dystrophies including cone rod dystrophy and retinitis pigmentosa.
|
18285826 |
2008 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
|
25363634 |
2015 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
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 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Patients with RP caused by ABCA4 mutations are characterized by an early onset and rapid progression of their retinal dystrophy, with extensive chorioretinal atrophy resulting in a very low visual acuity.
|
15019334 |
2004 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
|
15614537 |
2005 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans.
|
10958761 |
2000 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.
|
16546111 |
2006 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.
|
10413692 |
1999 |