Article
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Human mutation - 1 Jan 1992
Svensson E, Eisensmith R C, Dworniczak B, von Döbeln U, Hagenfeldt L, Horst J, Woo S L
Abstract excerpt
The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene. Approximately 50-60 mutations have been reported in Caucasians and are reflected in a wide range of clinical severities. Most mutations are linked to specific haplotypes, as defined by eight polymorphic restriction sites in the PAH gene. We hypothesized that...
Topics
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Child
- DNA
- Exons
- Female
- Genetic Testing
- Haplotypes
- Humans
- Infant, Newborn
- Kinetics
- Male