Article
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
American journal of human genetics - 1 Jun 1991
Labrune P, Melle D, Rey F, Berthelon M, Caillaud C, Rey J, Munnich A, Lyonnet S
Abstract excerpt
In the past few years, more than 20 different mutations have been reported in hyperphenylalaninemias. In southwestern Europe and Mediterranean countries, however, the mutant genotypes reported account for only a fraction (27%) of all mutant alleles at the phenylalanine hydroxylase (PAH) locus, and most of the mutations causing the disease remain unknown. In order to develop a strategy for rapid detection of...
Topics
- Base Sequence
- DNA
- DNA, Single-Stranded
- Exons
- Genotype
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Phenotype
- Phenylalanine Hydroxylase