Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

doi:10.1007/BF00244468

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Article

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Human genetics - 1 Oct 1993

Desviat L R, Pérez B, Ugarte M

Abstract excerpt

In order to investigate the molecular basis of phenylketonuria (PKU) in Spain, we analyzed the restriction fragment length polymorphism (RFLP) haplotypes and common mutations in the phenylalanine hydroxylase (PAH) gene in 32 unrelated Spanish PKU families. The distribution of RFLP haplotypes diff...

Topics

DNA Mutational Analysis
France
Gene Frequency
Genetic Linkage
Genetic Variation
Genotype
Haplotypes
Humans
Mediterranean Sea
Molecular Epidemiology
Mutation
Phenotype
Phenylketonurias
Polymorphism, Restriction Fragment Length
Portugal
Spain

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