Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy

Keyphrases

• Novel mutation 100%
• Macular Corneal Dystrophy 100%
• Carbohydrate Sulfotransferase 100%
• CHST6 100%
• Coding Region 50%
• United States 33%
• Missense mutation 33%
• Haplotype Analysis 33%
• Sequence Modification 33%
• Compound Heterozygous mutation 16%
• Serum Samples 16%
• Serum Levels 16%
• Direct Sequencing 16%
• Microsatellite Markers 16%
• Genomic DNA (gDNA) 16%
• Region-based Analysis 16%
• Frameshift mutation 16%
• Keratan Sulfate 16%
• Polymerase Chain Reaction Amplification 16%
• Mutation Analysis 16%
• Single Patient 16%
• Uncommon mutation 16%
• Single-family 16%
• Buccal Epithelium 16%
• Unaffected Relatives 16%
• Common Founder 16%
• C-sequence 16%
• Heterozygous State 16%
• Mutation Hotspots 16%
• Homozygous Nonsense mutation 16%

Biochemistry, Genetics and Molecular Biology

• Coding Region 100%
• Carbohydrate Sulfotransferase 100%
• Missense Mutation 66%
• Haplotype 66%
• Blood Level 33%
• Microsatellite Marker 33%
• Frameshift Mutation 33%
• Nonsense Mutation 33%
• Subtyping 33%
• Genomics 33%
• Polymerase Chain Reaction 33%
• Keratan Sulfate 33%