Article
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.
Human molecular genetics - 1 Sept 1994
Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver C R
Abstract excerpt
The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria patients occurs on haplotypes 2.3 and 1.8 in Europeans. The mutation involves a CpG dinucleotide; nonetheless, a single recombination event might also explain the two haplotype associations. By analysis of an STR in...
Topics
- Alleles
- Base Sequence
- DNA
- Europe
- Genetics, Population
- Haplotypes
- Humans
- Minisatellite Repeats
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Phenylalanine Hydroxylase
- Phenylketonurias
- Quebec
- Recombination, Genetic