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%