Article
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Pediatrics - 1 Apr 1996
Eisensmith R C, Martinez D R, Kuzmin A I, Goltsov A A, Brown A, Singh R, Elsas LJ I I, Woo S L
Abstract excerpt
OBJECTIVE: To determine the molecular basis of phenylketonuria (PKU) and related hyperphenylalaninemia (HPA) and to establish correlations between phenylalanine hydroxylase (PAH) genotypes and biochemical and clinical phenotypes in an ethnically diverse US population, PAH genotypes were determine...
Topics
- Alleles
- Base Sequence
- Ethnicity
- Europe
- Forecasting
- Gene Expression Regulation
- Genetics, Population
- Genotype
- Georgia
- Heterozygote
- Humans
- Infant, Newborn
- Molecular Biology
- Mutation
- Neonatal Screening
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase