Article
Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.
American journal of human genetics - 1 May 1995
Ramus S J, Treacy E P, Cotton R G
Abstract excerpt
Mutations in the phenylalanine hydroxylase (PAH) gene were identified in a group of untreated phenylketonuria patients from Victoria, Australia. Ninety-eight percent of the alleles were identified, and a total of 26 different mutations were detected on 83 independent chromosomes. The three most prevalent mutations--R408W, I65T, and IVS12nt1--together accounted for 54% of the alleles. A number of alleles were...
Topics
- Alleles
- Australia
- Chromosomes, Human
- Exons
- Female
- Gene Frequency
- Haplotypes
- Humans
- Ireland
- Male
- Mutation
- Pedigree