Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU Collaborative Study

Keyphrases

• United States 100%
• Gene mutation 100%
• Maternal Phenylketonuria 100%
• Phenylalanine Hydroxylase Gene 100%
• Collaborative Study 100%
• State Reporting 100%
• Hyperphenylalaninemia 75%
• Phenylalanine Hydroxylase Deficiency 50%
• Phenylalanine Hydroxylase 50%
• Phenylketonuria 50%
• Homozygosity 50%
• Clinical Investigation 25%
• US Population 25%
• Europe 25%
• Missense mutation 25%
• Detection Method 25%
• Molecular Diagnostics 25%
• Molecular Investigation 25%
• Mutational Spectrum 25%
• European Ancestry 25%
• Nonsense mutation 25%
• Allele Frequency 25%
• Novel mutation 25%
• Uncommon mutation 25%
• Splicing mutation 25%
• Allelic Variation 25%
• Relative Frequency 25%
• Microdeletion 25%
• Mutation Spectrum 25%
• Diagnostic Efficiency 25%
• Heterogeneous Population 25%
• Mixed Samples 25%
• European Patients 25%
• Mutation Detection 25%
• Allelic Heterogeneity 25%

Biochemistry, Genetics and Molecular Biology

• Gene Mutation 100%
• Phenylalanine Hydroxylase 100%
• Phenylketonuria 100%
• Homozygosity 33%
• Missense Mutation 16%
• Nonsense Mutation 16%
• Gene Frequency 16%