Mutations in the candidate gene for norrie disease

Keyphrases

• Norrie Disease 100%
• Direct Sequencing 25%
• Point mutation 25%
• Definitive Diagnosis 25%
• Structural Change 25%
• Disease Genes 25%
• X-linked 25%
• Healthy Controls 25%
• Exon 2 25%
• Causal Role 25%
• Promoter Region 25%
• Single-strand Conformation Polymorphism 25%
• PCR Products 25%
• Exon 1 25%
• Exon-intron Structure 25%
• Exon 3 25%
• Carrier Detection 25%
• Base Change 25%

Biochemistry, Genetics and Molecular Biology

• Candidate Gene 100%
• Exon 100%
• Single-Strand Conformation Polymorphism 33%
• Intron Structure 33%
• Promoter Region 33%
• Point Mutation 33%