Novel USH2A mutations in Israeli patients with retinitis pigmentosa and usher syndrome type 2

Keyphrases

• Retinitis pigmentosa 100%
• Usher Syndrome 100%
• USH2A 100%
• Compound Heterozygous mutation 28%
• Novel mutation 28%
• Null mutation 28%
• Autosomal Dominant Retinitis pigmentosa 28%
• Non-syndromic Retinitis pigmentosa 28%
• Clinical Significance 14%
• Novel Therapeutics 14%
• Missense 14%
• Sequence Analysis 14%
• Autosomal Recessive 14%
• Large Families 14%
• Single Strand 14%
• Conformation Analysis 14%
• Patient Assessment 14%
• Molecular Genetics 14%
• Restriction Endonuclease 14%
• Exon 2 14%
• Genetic Evaluation 14%

Biochemistry, Genetics and Molecular Biology

• Retinitis pigmentosa 100%
• USH2A 100%
• Autosomal Recessive Inheritance 33%
• Missense Mutation 22%
• Conformation 11%
• Exon 11%
• Missense 11%
• Molecular Genetics 11%
• Restriction Modification System 11%
• Genetic Evaluation 11%