Article
Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.
Somatic cell and molecular genetics - 1 Jan 1990
Wang T, Okano Y, Eisensmith R C, Fekete G, Schuler D, Berencsi G, Nasz I, Woo S L
Abstract excerpt
Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenylalanine hydroxylase (PAH). Several mutations in the PAH gene have recently been reported, and linkage disequilibrium was observed between RFLP haplotypes and specific mutations. A new molecular lesion has been...
Topics
- Alleles
- Base Sequence
- Europe, Eastern
- Exons
- Haplotypes
- Humans
- Linkage Disequilibrium
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Pedigree
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction