Article
Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994
Zschocke J, Graham C A, Stewart F J, Carson D J, Nevin N C
Abstract excerpt
In the first phase of the Northern Ireland PKU Study, we used automated sequencing to identify the spectrum of mutations in a random group of 32 unrelated phenylketonuria (PKU) families. We also investigated 7 Northern Irish patients with mild hyperphenylalaninaemia not requiring dietary interven...
Topics
- DNA Mutational Analysis
- Gene Frequency
- Humans
- Mutation
- Northern Ireland
- Phenylketonurias
- Severity of Illness Index