Congenital cataracts: De novo gene conversion event in CRYBB2

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Exome Sequencing 100%
• Gene Conversion 100%
• Pseudogene 100%
• Haplotype 50%
• Gene Linkage 50%
• Shotgun Sequencing 50%
• Linkage Analysis 50%
• Chromosome 22 50%
• Protein Sequencing 50%
• Autosomal Dominant Inheritance 50%
• Next Generation Sequencing 50%
• Cross Reaction 50%
• Dideoxynucleotide Sequencing 50%
• Gene Mapping 50%

Keyphrases

• Gene Conversion 100%
• CRYBB2 100%
• Congenital Cataract 100%
• Ashkenazi Jews 40%
• Exon 5 40%
• Pseudogene 40%
• Gene-specific Primers 40%
• Family Members 20%
• Jewish Population 20%
• Sanger Sequencing 20%
• Consanguineous Family 20%
• Whole Exome Sequencing 20%
• Nonsynonymous 20%
• Chromosome 22 20%
• Sequence Analysis 20%
• Autosomal Recessive Inheritance 20%
• Exome Sequencing 20%
• Analysis pipeline 20%
• De-novo mutations 20%
• Cross-reactivity 20%
• Coding Sequence 20%
• Linkage Mapping 20%
• Next-generation Sequencing 20%
• Genome-wide Linkage Analysis 20%
• Inheritance Model 20%
• Affected Family Members 20%
• Grandfathers 20%
• Short Reads 20%
• Homologous Sequences 20%
• Logarithm of the Odds Score 20%
• Pipeline Mapping 20%