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
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease.
Cai CX et al.
American Journal of Ophthalmology, 2018
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
29854428 (PubMed )
Supplement: 5706142.f1.docx
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease.
Razeen MM et al.
Translational Vision Science & Technology, 2016
26981328 (PubMed )
Supplement: i2164-2591-5-2-6-s01.pdf
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 heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.
Jonsson F et al.
Advances in Experimental Medicine and Biology, 2014
Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
Jonsson F et al.
European Journal of Human Genetics : Ejhg, 2013
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
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