Article
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
American journal of human genetics - 1 May 1990
John S W, Rozen R, Scriver C R, Laframboise R, Laberge C
Abstract excerpt
The codon 408 mutation (CGG----TGG, Arg----Trp) in exon 12 of the phenylalanine hydroxylase (PAH) gene occurs on haplotype 1 in French-Canadians; elsewhere this mutation (R408W) occurs on haplotype 2. A CpG dinucleotide is involved. The finding is compatible with a recurrent mutation, gene conver...
Topics
- Alleles
- Arginine
- Canada
- Codon
- Exons
- France
- Gene Conversion
- Haplotypes
- Humans
- Introns
- Mutation
- Oligonucleotide Probes
- Phenotype
- Phenylalanine Hydroxylase
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Recombination, Genetic
- Tryptophan