Mutation profiles of congenital cataract genes in 21 northern chinese families

Keyphrases

• Bioinformatics Analysis 16%
• Chinese Cohort 16%
• Chinese Family 100%
• Chromatin 16%
• Chromosomal Region 16%
• Congenital Cataract 100%
• Connexin Genes 16%
• Crystallin Gene 16%
• Deletion mutation 16%
• Disease Genes 16%
• Disease-causing mutations 16%
• Founder Effect 16%
• Gene mutation 66%
• Genetic Testing 16%
• Genomic DNA Isolation 16%
• GJA8 Gene 66%
• Haplotype Analysis 33%
• Lens Crystallins 16%
• Medical Records 16%
• Metagenomic Next-generation Sequencing (mNGS) 33%
• Missense 16%
• Mutation Detection 33%
• Mutation Profiling 100%
• Mutation Spectrum 16%
• Nonsense 16%
• Northern Chinese 100%
• Ophthalmic Examination 16%
• Pathogenic Genes 16%
• Peripheral Blood 16%
• Predictive Programs 16%
• Proband 16%
• Protein-coding Genes 16%
• Sanger Sequencing 33%
• Segregation Analysis 16%
• Sequence Variants 16%
• Splice Site 16%
• Transcription Factor Genes 16%
• Transmembrane Transporter 16%
• Transporter Genes 16%
• Uncommon mutation 16%

Biochemistry, Genetics and Molecular Biology

• Autosome 25%
• Candidate Gene 25%
• Chromosome Regions 25%
• Connexin 25%
• Crystallin 25%
• DNA Isolation 25%
• Founder Effect 25%
• Gene Mutation 100%
• Genetic Screening 25%
• Genotyping 25%
• Haplotype 50%
• Medical Record 25%
• Missense 25%
• Next Generation Sequencing 50%
• Proband 25%
• Sanger Sequencing 50%
• Transcription Factors 25%
• Transmembrane Transporters 25%
• Transporter Genes 25%