Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

Medicin og biovidenskab

• Familial Exudative Vitreoretinopathies 100%
• High-Throughput Nucleotide Sequencing 56%
• Mutation 32%
• Sequence Deletion 25%
• Genetic Counseling 8%
• Retinal Detachment 7%
• Genetic Association Studies 7%
• Point Mutation 7%
• Genetic Variation 7%
• Retina 6%
• Real-Time Polymerase Chain Reaction 5%
• Eye 4%
• Phenotype 4%
• Blood Vessels 4%
• Genes 2%
• Proteins 2%