Two mutations within the coding sequence of the phenylalanine hydroxylase gene.

doi:10.1007/BF00206750

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Article

Two mutations within the coding sequence of the phenylalanine hydroxylase gene.

Human genetics - 1 Aug 1990

Svensson E, Andersson B, Hagenfeldt L

Abstract excerpt

Two previously unidentified mutations at the phenylalanine hydroxylase locus were found during a study of the relationship between genotype and phenotype in phenylketonuria and hyperphenylalaninemia. One mutation eliminates the BamHI site in exon 7 and the other eliminates the HindIII site in exo...

Topics

Alleles
Base Sequence
Exons
Female
Genetic Testing
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Sweden

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