-459C>T point mutation in 5′ non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy

Keyphrases

• X-linked 100%
• Point mutation 100%
• T-point 100%
• Charcot-Marie-Tooth Neuropathy 100%
• 5′ Non-coding Region 100%
• GJB1 100%
• Family Members 33%
• Electrophysiological Study 33%
• Chinese Family 16%
• Structural Variants 16%
• Protein-coding Genes 16%
• Polymorphism 16%
• 5′-flanking Region 16%
• Non-coding Region 16%
• Secondary Structure 16%
• 5′-untranslated Region (5′-UTR) 16%
• Genetic Heterogeneity 16%
• Prediction Analysis 16%
• Schwann Cells 16%
• Internal Ribosome Entry Site 16%
• Clinical Heterogeneity 16%
• Mfold 16%
• Secondary Structure Prediction 16%
• Causal mutation 16%
• Taiwanese Families 16%
• Genotype-phenotype Correlation 16%
• Non-protein 16%
• Translation Quality 16%

Biochemistry, Genetics and Molecular Biology

• Point Mutation 100%
• Coding Region 100%
• GJB1 100%
• Protein Secondary Structure 33%
• Genetics 16%
• Untranslated Region 16%
• DNA Flanking Region 16%
• Schwann Cell 16%
• Internal Ribosome Entry Site 16%
• Genotype Phenotype Correlation 16%
• Messenger RNA 16%