Article
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
Human genetics - 1 Aug 1991
Konecki D S, Schlotter M, Trefz F K, Lichter-Konecki U
Abstract excerpt
DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was a...
Topics
- Alleles
- Base Sequence
- Chromosome Mapping
- DNA
- DNA Mutational Analysis
- Glutamates
- Glutamic Acid
- Glycine
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Turkey