Article
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
American journal of human genetics - 1 Mar 1991
Dianzani I, Forrest S M, Camaschella C, Saglio G, Ponzone A, Cotton R G
Abstract excerpt
To investigate the molecular basis of phenylketonuria in Italy we applied the chemical cleavage method (CCM) on amplified DNA encompassing exons 7 and 8 of the phenylalanine hydroxylase gene. These exons are in a region likely to be involved in enzyme function. Using this approach, we could simul...
Topics
- Base Sequence
- DNA
- Exons
- Genetic Testing
- Humans
- Italy
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length