Four New Mutations in the Ornithine Transcarbamylase Gene

Keyphrases

• Codon 100%
• Ornithine Transcarbamylase Deficiency 100%
• New mutation 100%
• Exon 9 80%
• Exon 40%
• Exon 6 40%
• Exon 3 40%
• Single-strand Conformation Polymorphism 40%
• Male Infant 40%
• Exon 8 40%
• Transversion 40%
• Polymerase Chain Reaction 20%
• Enzymatic Activity 20%
• Neonate 20%
• Genomic DNA (gDNA) 20%
• Migration Patterns 20%
• Late-onset 20%
• Liver 20%
• Clinical Presentation 20%
• Reading Frame 20%
• Deleterious mutations 20%
• Code Changes 20%
• Thymine 20%
• Premature Termination 20%
• Common Polymorphism 20%
• Polymorphism Pattern 20%
• Electrophoretic Migration 20%
• Nucleic Acid Bases 20%
• Residual Enzymatic Activity 20%
• Neonatal Hyperammonemia 20%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Ornithine Transcarbamylase 100%
• Codon 41%
• Enzyme Activity 16%
• Transversion 16%
• Reading Frame 8%
• Genomics 8%
• Polymerase Chain Reaction 8%
• Gel Electrophoresis 8%
• Thymine 8%