Article
[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families].
Bratislavske lekarske listy - 1 Apr 1994
Kádasi L, Poláková H, Feráková E, Krivusová T, Hudecová S, Szomolayová I, Strnová J, Hruskovic I, Ferák V
Abstract excerpt
Authors in this contribution present the results of screening for mutations in PAH gene responsible for classical phenylketonuria (PKU), and that of haplotype analysis, based on DNA analysis in 49 Caucasian families with at least one affected child from Slovak Republic. The clearly predominant PKU mutation in this population was the R408W with proportion of 45.9% among all PKU mutations. In addition four other...
Topics
- DNA
- Haplotypes
- Humans
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias