Article
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.
American journal of human genetics - 1 Aug 1994
Rozen R, Mascisch A, Lambert M, Laframboise R, Scriver C R
Abstract excerpt
Independent phenylketonuria (PKU) chromosomes (n = 109) representing 80% of a proband cohort in Quebec province carry 18 different identified mutations in 20 different mutation/haplotype combinations. The study reported here, the third in a series on Quebec populations, was done in the Montreal r...
Topics
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Female
- France
- Gene Frequency
- Genetics, Population
- Geography
- Haplotypes
- Humans
- Male
- Mutation
- Pedigree