Gene: ABCA4

Alternate names for this Gene: ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1

Gene Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2.

Gene is located in Chromosome: 1

Location in Chromosome : 1p22.1

Description of this Gene: ATP binding cassette subfamily A member 4

Type of Gene: protein-coding

rs137866734 in ABCA4 gene and Aspartate aminotransferase measurement PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

rs387906385 in ABCA4 gene and BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1557787559 in ABCA4 gene and CONE-ROD DYSTROPHY 3 (disorder) PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PMID 22264887 2012 Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

PMID 19217903 2009 G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

PMID 11017087 2000 Biochemical defects in ABCR protein variants associated with human retinopathies.

PMID 26593885 2016 Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

PMID 22427542 2012 A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.

PMID 24713488 2014 Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.

PMID 19074458 2009 ABCA4 disease progression and a proposed strategy for gene therapy.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 22328824 2012 Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

PMID 25082885 2014 Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

PMID 20696155 2010 Loss of peripapillary sparing in non-group I Stargardt disease.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

PMID 16103129 2005 ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 24444108 2014 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PMID 10958761 2000 Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

PMID 11385708 2001 Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 9503029 1998 Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

PMID 10711710 2000 New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PMID 18285826 2008 ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

PMID 9466990 1998 Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 10413692 1999 Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.

rs481931 in ABCA4 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs2151846 in ABCA4 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 20436469 2010 SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs113106943 in ABCA4 gene and Cone Dystrophy PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 10958761 2000 Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

rs1762111 in ABCA4 gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs61749423 in ABCA4 gene and Leber Congenital Amaurosis PMID 10090887 1999 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.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

rs11806129 in ABCA4 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs28938473 in ABCA4 gene and Macular Degeneration, Age-Related, 2 PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 19028736 2009 Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

rs1553192682 in ABCA4 gene and Macular dystrophy PMID 25312043 2015 Clinical and molecular characteristics of childhood-onset Stargardt disease.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 15614537 2005 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 20960624 2008 Gene symbol: ABCA4. Disease: Macular dystrophy.

PMID 14517951 2003 Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

PMID 10874631 1999 Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

rs1800728 in ABCA4 gene and Macular dystrophy, concentric annular PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs61751398 in ABCA4 gene and Night blindness, congenital stationary PMID 12515255 2002 The ABCA4 gene in autosomal recessive cone-rod dystrophies.

rs3789432 in ABCA4 gene and Oral cleft PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs61750641 in ABCA4 gene and Progressive cone dystrophy (without rod involvement) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs61748558 in ABCA4 gene and RETINITIS PIGMENTOSA 19 PMID 11726554 2001 Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 24444108 2014 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.

PMID 16103129 2005 ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs1064793014 in ABCA4 gene and Retinal Dystrophies PMID 25066811 2014 Genetic and clinical analysis of ABCA4-associated disease in African American patients.

PMID 22229821 2012 Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.

PMID 23982839 2013 ABCA4 gene screening by next-generation sequencing in a British cohort.

PMID 25312043 2015 Clinical and molecular characteristics of childhood-onset Stargardt disease.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

PMID 15614537 2005 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

PMID 11328725 2001 An analysis of allelic variation in the ABCA4 gene.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 11594993 2001 Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 10090887 1999 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.

PMID 11379881 2001 Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

PMID 21911583 2011 Analysis of the ABCA4 gene by next-generation sequencing.

PMID 23918662 2013 Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

rs1553192726 in ABCA4 gene and Retinitis Pigmentosa PMID 25312043 2015 Clinical and molecular characteristics of childhood-onset Stargardt disease.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 11594993 2001 Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 20554613 2010 Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs1047376 in ABCA4 gene and STARGARDT DISEASE 1 (disorder) PMID 28118664 2017 Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

PMID 25066811 2014 Genetic and clinical analysis of ABCA4-associated disease in African American patients.

PMID 25346251 2015 An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

PMID 9503029 1998 Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

PMID 18977788 2009 Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

PMID 10206579 1999 Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

PMID 11385708 2001 Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

PMID 24444108 2014 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 11594993 2001 Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PMID 24097981 2013 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PMID 11328725 2001 An analysis of allelic variation in the ABCA4 gene.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 9490294 1998 Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.

PMID 10612508 1999 A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

PMID 10090887 1999 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.

PMID 10746567 2000 Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

PMID 10711710 2000 New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 10634594 2000 An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PMID 23499370 2013 A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.

PMID 22661472 2012 Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23982839 2013 ABCA4 gene screening by next-generation sequencing in a British cohort.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 21911583 2011 Analysis of the ABCA4 gene by next-generation sequencing.

PMID 25082885 2014 Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 19217903 2009 G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 25312043 2015 Clinical and molecular characteristics of childhood-onset Stargardt disease.

PMID 23143460 2012 Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 23953153 2013 Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 22449572 2012 Clinical and genetic characteristics of late-onset Stargardt's disease.

PMID 15579991 2004 Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.

PMID 11017087 2000 Biochemical defects in ABCR protein variants associated with human retinopathies.

PMID 25640233 2014 [The molecular genetic and clinical findings in two probands with Stargardt disease].

PMID 21786275 2012 Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.

PMID 22661473 2012 Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

PMID 22025579 2011 High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

PMID 16103129 2005 ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

PMID 22264887 2012 Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 25921964 2015 Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.

PMID 29925512 2019 Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 24713488 2014 Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

PMID 29461686 2018 ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.

PMID 22328824 2012 Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.

PMID 15614537 2005 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

PMID 26261413 2015 Reduced macular function in ABCA4 carriers.

PMID 19074458 2009 ABCA4 disease progression and a proposed strategy for gene therapy.

PMID 20696155 2010 Loss of peripapillary sparing in non-group I Stargardt disease.

PMID 25698705 2015 Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

PMID 17277736 2007 A patient with STGD caused by the homozygous p.Arg1129Leu mutation in the ABCA4 gene was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change.

PMID 17296903 2007 Molecular testing for hereditary retinal disease as part of clinical care.

PMID 20029649 2009 Outcome of ABCA4 microarray screening in routine clinical practice.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 24453473 2014 Association between genotype and phenotype in families with mutations in the ABCA4 gene.

PMID 22968130 2013 Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

PMID 11379881 2001 Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

PMID 23096905 2012 Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease.

PMID 20108432 2010 Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

PMID 23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

PMID 20335603 2010 ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

PMID 20981092 2010 A map of human genome variation from population-scale sequencing.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 23918662 2013 Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

PMID 14517951 2003 Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

PMID 11846518 2001 Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene.

PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 23776498 2013 Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

PMID 25544989 2014 Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

PMID 24342785 2014 [Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients].

PMID 11702214 2001 Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.

PMID 11594993 2001 One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated.

PMID 26092729 2015 Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.

PMID 25283059 2015 Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

PMID 16123440 2005 Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.

PMID 11687513 2001 STGD-affected individual AR682-03 was compound heterozygous for the mutation 2588G-->C and a complex allele, [W1408R; R1640W].

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 10958761 2000 Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 12962493 2003 Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter.

PMID 25712131 2015 Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

PMID 24509150 2013 Stargardt disease caused by a rare combination of double homozygous mutations.

PMID 9466990 1998 Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

PMID 22312191 2012 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.

PMID 26161775 2015 Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

PMID 24743636 2014 Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy.

PMID 15494742 2004 Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

PMID 11687513 2001 Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

PMID 12037008 2002 Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

PMID 11687513 2001 STGD-affected individual AR682-03 was compound heterozygous for the mutation 2588G-->C and a complex allele, [W1408R; R1640W].

PMID 10413692 1999 Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.

PMID 11123914 2000 The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.

PMID 26377081 2015 Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.

PMID 24585425 2014 Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease.

PMID 12192456 2002 Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.

PMID 23134348 2013 Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

PMID 17982420 2007 N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.

PMID 15192030 2004 Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

PMID 23424971 2013 [Genotype screening of retinal dystrophies in the Japanese population using a microarray].

PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

PMID 10509673 1999 A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.

PMID 23443024 2013 Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

PMID 22229821 2012 Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.

PMID 23419329 2013 ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

PMID 18652558 2008 Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

PMID 11919200 2002 Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.

PMID 23144455 2012 Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.

PMID 10090887 1999 Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

PMID 19265867 2010 Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.

PMID 15108289 2004 Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.

rs11806129 in ABCA4 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11806129 in ABCA4 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs150774447 in ABCA4 gene and Stargardt's disease PMID 25910913 2015 High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

PMID 25066811 2014 Genetic and clinical analysis of ABCA4-associated disease in African American patients.

PMID 22328824 2012 Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 23982839 2013 ABCA4 gene screening by next-generation sequencing in a British cohort.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 14517951 2003 Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

PMID 10612508 1999 A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

PMID 25082885 2014 Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

PMID 19217903 2009 G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

PMID 17325179 2007 Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 19074458 2009 ABCA4 disease progression and a proposed strategy for gene therapy.

PMID 22661473 2012 Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

PMID 22312191 2012 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.

PMID 16103129 2005 ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

PMID 20696155 2010 Loss of peripapillary sparing in non-group I Stargardt disease.

PMID 22025579 2011 High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

PMID 11017087 2000 Biochemical defects in ABCR protein variants associated with human retinopathies.

PMID 9466990 1998 Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

PMID 15579991 2004 Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.

PMID 22312191 2012 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.

PMID 10090887 1999 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.

PMID 26593885 2016 Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

PMID 25712131 2015 Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 10711710 2000 New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PMID 29186038 2017 Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

PMID 23918662 2013 Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

PMID 27820952 2016 The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.

PMID 16303926 2005 Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.

PMID 29114839 2017 Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 23769331 2013 The clinical effect of homozygous ABCA4 alleles in 18 patients.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 11328725 2001 An analysis of allelic variation in the ABCA4 gene.

PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 27367509 2016 Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

PMID 26229699 2015 Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.

PMID 24713488 2014 Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

PMID 12192456 2002 Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.

PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.

PMID 11123914 2000 The NBD2 expression plasmid was used to generate a Leu2027Phe mutation associated with Stargardt disease.

PMID 29422768 2018 Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

PMID 23143460 2012 Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

PMID 18652558 2008 Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

PMID 28130426 2017 Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

PMID 25283059 2015 Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

PMID 23419329 2013 ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

PMID 10090887 1999 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.

PMID 11919200 2002 Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.

rs28938473 in ABCA4 gene and Vitreoretinal degeneration PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.