Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

THE MUTATION AND POLYMORPHISM OF THE HUMAN β-GLOBIN GENE AND ITS SURROUNDING DNA

1984 • 404 citations

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1983 • 334 citations

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1985 • 325 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2

1987 • 178 citations

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1986 • 174 citations

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

1985 • 152 citations

Gene Transfer and Expression of Human Phenylalanine Hydroxylase

1985 • 131 citations

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

1987 • 109 citations

Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

1985 • 81 citations

PHENYLKETONURIA AND OTHER PHENYLALANINE HYDROXYLATION MUTANTS IN MAN

1980 • 58 citations

The PKU locus in man is on chromosome 12.

1984 • 55 citations

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1988 • 44 citations

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

1988 • 43 citations

POLYMORPHIC DNA HAPLOTYPES AT THE PHENYLALANINE HYDROXYLASE LOCUS IN PRENATAL DIAGNOSIS OF PHENYLKETONURIA

1986 • 38 citations

Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic

1988 • 26 citations

Alternative bioassays of kinship between loci.

1988 • 24 citations

Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP.

1986 • 17 citations