Characterization of mouse and human GTP cyclohydrolase I genes: Mutations in patients with GTP cyclohydrolase I deficiency

Keyphrases

• Gene mutation 100%
• GTP Cyclohydrolase I Gene 100%
• GTP Cyclohydrolase I 100%
• Exon 42%
• Complementary DNA (cDNA) 28%
• Rate-limiting Enzyme 14%
• Escherichia Coli 14%
• Enzyme Activity 14%
• Missense mutation 14%
• Genomic DNA (gDNA) 14%
• Flanking Sequence 14%
• Tetrahydrobiopterin 14%
• Human Liver 14%
• Fluorescence in Situ Hybridization 14%
• Transcription Start Site 14%
• Single-copy Gene 14%
• Human Genes 14%
• Chromosome 14 14%
• Regional Mapping 14%
• Dystonia 14%
• Dopa-responsive Dystonia 14%
• Acceptor Site 14%
• Diurnal Fluctuation 14%

Biochemistry, Genetics and Molecular Biology

• Mouse 100%
• Gene Mutation 100%
• GTP Cyclohydrolase I 100%
• Exon 25%
• Messenger RNA 16%
• Enzyme 16%
• Genetics 8%
• Transcription 8%
• Anabolism 8%
• DNA Library 8%
• Escherichia coli 8%
• Binding Site 8%
• Intron 8%
• Missense Mutation 8%
• DNA Flanking Region 8%
• Enzyme Activity 8%
• Tetrahydrobiopterin 8%
• Molecular Cloning 8%
• Fluorescence in Situ Hybridization 8%
• Circadian Rhythm 8%
• Transcription Initiation Site 8%
• Chromosome 14 8%

Neuroscience

• Gene Mutation 100%
• GTP Cyclohydrolase I 100%
• Exon 25%
• Dystonia 16%
• Complementary DNA 8%
• In Situ Hybridization 8%
• DNA Library 8%
• Binding Site 8%
• Enzyme Activity 8%
• Tetrahydrobiopterin 8%
• Missense Mutation 8%
• Intron 8%
• DNA Flanking Region 8%
• Genomic DNA 8%
• Transcription Initiation Site 8%
• Anabolism 8%
• DOPA 8%
• Chromosome 14 8%