Article
Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.
European journal of human genetics : EJHG - 1 Jan 1993
Svensson E, Wang Y, Eisensmith R C, Hagenfeldt L, Woo S L
Abstract excerpt
The proximal promoter region of the human phenylalanine hydroxylase (PAH) gene was analyzed for the presence of mutations in 122 European phenylketonuria (PKU) and hyperphenylalaninemia patients having altogether 187 uncharacterized mutant PAH alleles. This promoter fragment, which contained the...
Topics
- Base Sequence
- DNA
- Genetic Testing
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Promoter Regions, Genetic