Article
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
European journal of human genetics : EJHG - 1 Jan 1998
Carter K C, Byck S, Waters P J, Richards B, Nowacki P M, Laframboise R, Lambert M, Treacy E, Scriver C R
Abstract excerpt
We describe variation at the PAH locus in the population of Quebec. We successfully analyzed 135 of 141 chromosomes from phenylketonuria (PKU) probands (95.7% of the sample), and eight additional chromosomes from a small number of probands with non-PKU hyperphenylalaninemia (HPA). The full set of...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Chromosomes, Human, Pair 12
- Databases, Factual
- Genetic Variation
- Haplotypes
- Homozygote
- Humans
- Mutation
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Genetic
- Quebec