Article
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.
Human genetics - 1 Feb 1991
Berthelon M, Caillaud C, Rey F, Labrune P, Melle D, Feingold J, Frézal J, Briard M L, Farriaux J P, Guibaud P
Abstract excerpt
A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or f...
Topics
- Africa, Northern
- Amino Acid Sequence
- DNA
- Europe
- Genotype
- Haplotypes
- Humans
- Introns
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Restriction Fragment Length