A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Keyphrases

• Nonsense 100%
• C2orf71 100%
• Atypical Usher Syndrome 100%
• CEP250 100%
• Nonsense mutation 60%
• Retinitis pigmentosa 60%
• Usher Syndrome 60%
• Sensorineural Hearing Loss 60%
• Homozygote 40%
• Homozygosity Mapping 40%
• Whole Exome Sequencing 40%
• Electroretinography 20%
• Phosphorylation 20%
• Additive Effect 20%
• Consanguineous Family 20%
• Genetic Analysis 20%
• Heterogeneous Groups 20%
• Associated Proteins 20%
• Inherited Disease 20%
• Centrosome 20%
• Expression Analysis 20%
• Clinical Examination 20%
• Electron Microscopic Analysis 20%
• Respiratory System 20%
• Truncated Protein 20%
• Gene mutation 20%
• Structural Abnormalities 20%
• Retinal Degeneration 20%
• Ciliary 20%
• Atypical Forms 20%
• Funduscopy 20%
• Retinal Involvement 20%
• Ciliary Genes 20%
• NEK2 20%
• C-Nap1 20%
• Early-onset Sensorineural Hearing Loss 20%
• Jewish Ethnicity 20%
• Gene Encoding 20%
• Mutant Allele 20%
• Visual Acuity Test 20%
• Ciliary Proteins 20%

Biochemistry, Genetics and Molecular Biology

• Hearing 100%
• Nonsense Mutation 75%
• Retinitis pigmentosa 75%
• Allele 50%
• Homozygote 50%
• Exome Sequencing 50%
• Homozygosity 50%
• Electron Microscopy 25%
• Genetics 25%
• Centrosome 25%
• Genetic Disorder 25%
• Expression Analysis 25%
• Visual Acuity 25%
• Electroretinography 25%
• Chromosome 25%
• phosphorylation 25%