Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

doi:10.1007/BF00204935

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Article

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

Human genetics - 1 Nov 1991

Zygulska M, Eigel A, Dworniczak B, Sutkowska A, Pietrzyk J J, Horst J

Abstract excerpt

In order to investigate the molecular basis of phenylketonuria (PKU) in the Polish population, we screened 44 mutant chromosomes from PKU probands for six known mutations, frequently occurring in western European countries, by polymerase chain reaction amplification of their genomic DNA and hybri...

Topics

Alleles
Base Sequence
Blotting, Southern
DNA
Humans
Molecular Sequence Data
Mutation
Phenylketonurias
Poland
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

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