Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification

Keyphrases

• Duplication 100%
• PAX2 100%
• Renal Coloboma Syndrome 100%
• PAX2 Gene 100%
• Multiplex Ligation-dependent Probe Amplification 100%
• Exon 42%
• Mutation-negative 42%
• Sanger Sequencing 28%
• Whole Gene Deletion 28%
• Gene Deletion 14%
• Clinical Testing 14%
• Inherited Disorders 14%
• Point mutation 14%
• Whole Genome Duplication 14%
• Proband 14%
• Genomic Deletion 14%
• Array Comparative Genomic Hybridization (aCGH) 14%
• Clinical Suspicion 14%
• Insertion-deletion 14%
• Large Deletion 14%
• Cytogenetic Techniques 14%
• Deletion mutation 14%
• Coding Exons 14%
• G-banding 14%
• Locus Control Region 14%
• In(III) 14%
• Negative Samples 14%

Biochemistry, Genetics and Molecular Biology

• PAX2 100%
• Multiplex Ligation-Dependent Probe Amplification 100%
• Exon 36%
• Gene Deletion 27%
• Sanger Sequencing 18%
• Indel 9%
• Locus Control Region 9%
• Proband 9%
• Array Comparative Genomic Hybridization 9%
• Cytogenetics 9%
• Point Mutation 9%
• G Banding 9%