Article
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
Journal of medical genetics - 1 Oct 1991
Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, Devoto M, Romeo G, Sturhmann M, Kucinskas V, Yurgelyavicius V, Horst J
Abstract excerpt
Direct sequencing of the phenylalanine hydroxylase (PAH) gene indicated the existence of silent mutations in codons 232, 245, and 385, linked to specific RFLP haplotypes in several Caucasian populations, namely Germans, Bulgarians, Italians, Turks, and Lithuanians. All three mutations create a ne...
Topics
- Base Sequence
- Blotting, Southern
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Restriction Fragment Length
- Prenatal Diagnosis