Article
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
Human mutation - 1 Jan 1992
Ramus S J, Forrest S M, Cotton R G
Abstract excerpt
Illegitimately transcribed phenylalanine hydroxylase mRNA was amplified using the polymerase chain reaction from both fibroblasts and Epstein-Barr virus-transformed lymphocytes. This method was used to study mutations of this gene in patients with phenylketonuria and known point mutations were ea...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- Exons
- Genetic Carrier Screening
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- RNA Splicing
- Reference Values
- Restriction Mapping
- Transcription, Genetic