Two different novel EYS mutations cause retinitis pigmentosa in a single Bedouin kindred

Keyphrases

• Bedouin 100%
• Kindred 100%
• Retinitis pigmentosa 100%
• EYS Gene 100%
• Consanguineous 66%
• All-affected 66%
• Nonsense mutation 66%
• Compound Heterozygous mutation 66%
• Israeli 33%
• Family Members 33%
• Ministry of Health 33%
• Bedouin Population 33%
• Loss Function 33%
• Exon 33%
• Severe Disease 33%
• Genetic Counseling 33%
• Encoded Protein 33%
• Health Research 33%
• Early Diagnosis 33%
• Whole Exome Sequencing 33%
• Homozygosity Mapping 33%
• Deletion mutation 33%
• Homozygosity 33%
• SNP Array 33%
• Segregation Analysis 33%
• Affected Family Members 33%
• Heredity 33%
• Clan 33%
• Microdeletion 33%
• Disease Gene Identification 33%
• Early-onset Retinitis pigmentosa 33%

Biochemistry, Genetics and Molecular Biology

• Retinitis pigmentosa 100%
• Nonsense Mutation 50%
• Homozygosity 50%
• Exon 25%
• Exome Sequencing 25%
• Genetic Counseling 25%
• SNP Array 25%
• Compound Heterozygosity 25%
• Disease Gene Identification 25%