Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

Keyphrases

• X-linked Retinoschisis 100%
• RS1 Gene 100%
• Exon Deletion 100%
• Exon 1 50%
• Exon 4 50%
• Direct Sequencing 33%
• Schisis 33%
• Exon 16%
• Genomic Regions 16%
• Amino Acid Substitution 16%
• Exon 5 16%
• Molecular Genetics 16%
• Genomic Deletion 16%
• Inner Layer 16%
• Genomic Mechanisms 16%
• Genetic Evaluation 16%
• Array Comparative Genomic Hybridization (aCGH) 16%
• Electroretinogram 16%
• Large Deletion 16%
• Splice Site 16%
• Gene Locus 16%
• Clinical Presentation 16%
• Mutation Spectrum 16%
• Genetic Aberrations 16%
• Ophthalmic Examination 16%
• Retinoschisis 16%
• Neuroretina 16%
• Vitreoretinal 16%
• Small Indel 16%
• Primer Walking 16%
• Site Variation 16%
• Dystrophy 16%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Genomics 71%
• Intron 42%
• Promoter Region 14%
• Molecular Genetics 14%
• Amino Acid Substitution 14%
• Indel 14%
• Gene Locus 14%
• Array Comparative Genomic Hybridization 14%
• Primer Walking 14%
• Genetic Evaluation 14%