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
Analysis of the ABCA4 gene by next-generation sequencing.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2011
Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2009
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Aguirre-Lamban J et al.
The British Journal of Ophthalmology, 2009
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lambán J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lambán J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Maia-Lopes S et al.
Human Genetics, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy.
Maia-Lopes S et al.
Human Genetics, 2008
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
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