Mutation profiles of congenital cataract genes in 21 northern chinese families

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%

Keyphrases

• Chromatin 16%
• Congenital Cataract 100%
• Connexin Genes 16%
• Crystallin Gene 16%
• Deletion mutation 16%
• Disease-causing mutations 16%
• Founder Effect 16%
• Genomic DNA Isolation 16%
• GJA8 Gene 66%
• Lens Crystallins 16%
• Metagenomic Next-generation Sequencing (mNGS) 33%
• Missense 16%
• Mutation Profiling 100%
• Mutation Spectrum 16%
• Pathogenic Genes 16%
• Predictive Programs 16%
• Sanger Sequencing 33%
• Segregation Analysis 16%
• Transcription Factor Genes 16%
• Transmembrane Transporter 16%
• Transporter Genes 16%