Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.

doi:10.1007/BF01213084

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Article

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.

Human genetics - 1 May 1991

Svensson E, von Döbeln U, Hagenfeldt L

Abstract excerpt

The genetic heterogeneity at the phenylalanine hydroxylase (PAH) locus was studied in 88 families including 93 of the 105 children with phenylketonuria (PKU) or hyperphenylalaninemia (HPA) detected through the Swedish neonatal screening program from 1966 to the end of 1986. Haplotypes based on ei...

Topics

Alleles
DNA
Haplotypes
Heterozygote
Humans
Infant, Newborn
Mutation
Phenotype
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Restriction Fragment Length
Prenatal Diagnosis
Sweden

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