Article
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Clinical genetics - 1 Mar 1992
Kalaydjieva L, Dworniczak B, Kremensky I, Koprivarova K, Radeva B, Milusheva R, Aulehla-Scholz C, Horst J
Abstract excerpt
A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a co...
Topics
- Base Sequence
- Bulgaria
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Haplotypes
- Humans
- Infant
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Phenotype
- Phenylketonurias
- White People