Associated Papers
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
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
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
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR et al.
Ophthalmology, 2010
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.
Fumagalli A et al.
Human Genetics, 2001
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.
Maugeri A et al.
American Journal of Human Genetics, 1999
Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients.
Darbari E et al.
Journal of Ophthalmic & Vision Research, 0
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