Associated Papers
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Sangermano R et al.
Genome Research, 2018
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F et al.
Investigative Ophthalmology & Visual Science, 2016
The clinical effect of homozygous ABCA4 alleles in 18 patients.
Fujinami K et al.
Ophthalmology, 2013
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Burke TR et al.
Investigative Ophthalmology & Visual Science, 2012
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
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010
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
Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.
Schmidt S et al.
Investigative Ophthalmology & Visual Science, 2003
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