Associated Papers
Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration.
Chou HD et al.
Diagnostics (basel, Switzerland), 2023
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
Green JS et al.
European Journal of Human Genetics : Ejhg, 2020
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Smaragda K et al.
Journal of Ophthalmology, 2018
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.
Schulz HL et al.
Investigative Ophthalmology & Visual Science, 2017
Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).
Grassmann F et al.
Bmc Ophthalmology, 2015
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.
Battu R et al.
Biomed Research International, 2015
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Zernant J et al.
Human Mutation, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
Analysis of the ABCA4 gene by next-generation sequencing.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2011
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Aguirre-Lamban J et al.
Investigative Ophthalmology & Visual Science, 2011
Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene.
Fujinami K et al.
Acta Ophthalmologica, 2011
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R et al.
The British Journal of Ophthalmology, 2009
Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.
Beit-Ya'acov A et al.
Investigative Ophthalmology & Visual Science, 2007
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.
Zhang Q et al.
Human Genetics, 2005
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
Mandal MN et al.
Investigative Ophthalmology & Visual Science, 2005
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
Yatsenko AN et al.
Human Genetics, 2001