Autosomal dominant familial dyskinesia and facial myokymia: Single exome sequencing identifies a mutation in adenylyl cyclase 5

Keyphrases

• Autosomal Dominant 100%
• Dyskinesia 100%
• Exome Sequencing 100%
• Adenylyl Cyclase Type 5 100%
• Exome 33%
• Linkage Region 33%
• Whole Exome Sequencing 16%
• Functional Significance 16%
• In(III) 16%
• Causative Gene 16%
• 1000 Genomes Project 16%
• Single nucleotide Variant 16%
• Missense 16%
• Movement Disorders 16%
• Chromosome Bands 16%
• Striatum 16%
• Missense mutation 16%
• DbSNP 16%
• Bioinformatics 16%
• Sequence Database 16%
• Disease Status 16%
• Nonconservative 16%
• Splice Site 16%
• Nonsense 16%
• Mendelian Disease 16%
• Autosomal Dominant Disorder 16%
• Segregation Analysis 16%

Biochemistry, Genetics and Molecular Biology

• Adenylate Cyclase 100%
• Autosomal Dominant Inheritance 100%
• Exome 100%
• Exome Sequencing 100%
• Gene Linkage 75%
• Sequence Database 25%
• Single-Nucleotide Polymorphism 25%
• Missense 25%
• Chromosome Band 25%
• Missense Mutation 25%
• Bioinformatics 25%