Associated Papers
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.
Kolesnikova M et al.
Jci Insight, 2022
36264634 (PubMed )
Supplement: jciinsight-7-162687-s246.pdf
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
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
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
Paloma E et al.
Human Mutation, 2001
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