Exome sequencing identifies a missense variant in efemp1 co-segregating in a family with autosomal dominant primary open-angle glaucoma

Keyphrases

• Acute Vision Loss 20%
• Adult-onset 20%
• African American Families 20%
• Autosomal Dominant 100%
• Chromosome 2p 20%
• Ciliary Body 20%
• Clinically Significant 20%
• Common Variants 20%
• Cornea 20%
• Cultured Cells 20%
• Damage Effect 20%
• EFEMP1 100%
• Epidermal Growth Factor-containing Fibulin-like Extracellular Matrix Protein 1 20%
• Exome Sequencing 100%
• Exon 5 20%
• Expression Study 20%
• Extracellular Matrix Protein 1 (ECM1) 80%
• Fibulin 80%
• Function Expression 20%
• Gene Coding 20%
• Genetic Defects 20%
• Haplotype Analysis 20%
• In Silico 20%
• In Situ Hybridization 20%
• Inner nuclear Layer 20%
• Intracellular Accumulation 20%
• Linkage Analysis 20%
• Microsatellite Markers 20%
• Missense Variant 100%
• Mouse Eye 20%
• Mutant Protein 20%
• Oligonucleotide Probe 20%
• Optic Nerve Head 20%
• Optic Nerve Head Morphology 20%
• Primary Open-angle Glaucoma 100%
• Protein Function 20%
• Retina 20%
• Retinal Ganglion Cell Death 20%
• Transient Expression 20%
• Trio Exome Sequencing 20%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Cell Death 20%
• Chromosome 2p 20%
• Common Variant 20%
• Epidermal Growth Factor 20%
• Exome Sequencing 100%
• Exon 20%
• Extracellular Matrix Protein 100%
• Fibulin 100%
• Gene Linkage 20%
• Genetics 20%
• Haplotype 20%
• In Situ Hybridization 20%
• Microsatellite Marker 20%
• Missense 100%
• Mutant Protein 20%
• Oligonucleotide Probe 20%
• Optics 40%
• Protein Function 20%
• Retinal Ganglion Cell 20%
• Synapsin I 100%
• Transient Expression 20%
• Wild Type 20%

Neuroscience

• Cell Death 20%
• Chromosome 2p 20%
• Ciliary Body 20%
• Cornea 20%
• Epidermal Growth Factor 20%
• Exome Sequencing 100%
• Exon 20%
• Extracellular Matrix 100%
• Fibulin 100%
• Genetics 20%
• Haplotype 20%
• In Situ Hybridization 20%
• Matrix Protein 100%
• Microsatellite 20%
• Mutant Protein 20%
• Oligonucleotide 20%
• Open-Angle Glaucoma 100%
• Optic Nerve 40%
• Protein Function 20%
• Retinal Ganglion Cell 20%
• Synapsin I 100%
• Transient Expression 20%