Article
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Human mutation - 1 Jan 1992
Eisensmith R C, Woo S L
Abstract excerpt
Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups. These mutations all exhibit a high degree of association with specific restriction fragment-length polymorphism haplotypes at the PAH locus. About 50 of these mutations are single-base substitutions, including six nonsense mutations and...
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Codon
- Humans
- Mutation
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Genetic