Article
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
American journal of human genetics - 1 Jan 1995
Eisensmith R C, Goltsov A A, O'Neill C, Tyfield L A, Schwartz E I, Kuzmin A I, Baranovskaya S S, Tsukerman G L, Treacy E, Scriver C R
Abstract excerpt
The relative frequency of the common phenylalanine hydroxylase (PAH) mutation R408W and its associations with polymorphic RFLP, VNTR, and short-tandem-repeat (STR) sites in the PAH gene were examined in many European populations and one representative North American population of defined European...
Topics
- Alleles
- Ethnicity
- Europe
- Genes, Recessive
- Haplotypes
- History, Ancient
- History, Medieval
- Humans
- Ireland
- Minisatellite Repeats
- North America
- Phenylalanine Hydroxylase
- Phenylketonurias
- Point Mutation
- Polymorphism, Restriction Fragment Length