Article
Recurrent mutation in the human phenylalanine hydroxylase gene.
American journal of human genetics - 1 May 1990
Okano Y, Wang T, Eisensmith R C, Güttler F, Woo S L
Abstract excerpt
We report the identification of a missense mutation of Glu280 to Lys280 in the phenylalanine hydroxylase (PAH) gene of a phenylketonuria (PKU) patient in Denmark. The mutation is associated with haplotype 1 of the PAH gene in this population. This mutation has previously been found in North Afric...
Topics
- Alleles
- Base Sequence
- DNA
- Female
- Genes
- Genetic Carrier Screening
- Glutamates
- Glutamic Acid
- Haplotypes
- Humans
- Leukocytes
- Lysine
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree
- Phenylalanine Hydroxylase