Whole exome sequencing identified MCM2 as a novel causative gene for autosomal dominant nonsyndromic deafness in a Chinese family

Keyphrases

• Apoptosis 16%
• Autosomal Dominant 100%
• Autosomal Recessive Inheritance 16%
• Causative Gene 100%
• Chinese Family 100%
• Chinese Population 16%
• Cochlea 33%
• Complementary DNA (cDNA) 16%
• DbSNP 16%
• Disease Variants 16%
• Eukaryotic Genomes 16%
• Genetic Analysis 16%
• Genome Replication 16%
• Guinea pig 16%
• Hair Cell 16%
• Hearing Impairment 33%
• HEK293 Cells 16%
• Immunofluorescence 16%
• MCM2 100%
• Missense Variants 33%
• Non-syndromic Hearing Loss 16%
• Nonsyndromic 16%
• Nonsyndromic Deafness 100%
• Novel Genes 16%
• Pedigree 16%
• Pro-apoptosis 16%
• Protein Expression 16%
• SNP 16%
• Sudden Sensorineural Hearing Loss (SSNHL) 16%
• Western Blot 16%
• Whole Exome Sequencing 100%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Cell Cycle 16%
• Exome Sequencing 100%
• Genetics 16%
• Guinea Pig 16%
• Immunofluorescence 16%
• MCM2 100%
• Missense 33%
• Nonsyndromic Deafness 100%
• Pedigree 16%
• Programmed Cell Death 33%
• Protein Expression 16%
• Single Nucleotide Polymorphism 16%
• Western Blot 16%