Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

[2] New M13 vectors for cloning

1983 • 5,402 citations

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1963 • 2,115 citations

Human GM-CSF: Molecular Cloning of the Complementary DNA and Purification of the Natural and Recombinant Proteins

1985 • 1,253 citations

[32] Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

1983 • 1,093 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

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

1980 • 194 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

Inheritance of allelic blueprints for methylation patterns

1988 • 172 citations

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

1985 • 152 citations

SCREENING FOR PHENYLKETONURIA MUTATIONS BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTION

1988 • 137 citations

Gene Transfer and Expression of Human Phenylalanine Hydroxylase

1985 • 131 citations

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria

1987 • 129 citations

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

1982 • 113 citations

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

1987 • 109 citations

Molecular basis and population genetics of phenylketonuria

1989 • 79 citations

[49] Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride

1987 • 78 citations

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1989 • 74 citations

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

1989 • 71 citations

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1988 • 60 citations

PRENATAL DIAGNOSIS OF CLASSIC PHENYLKETONURIA BY DNA ANALYSIS

1985 • 60 citations

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria

1987 • 56 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

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

1988 • 42 citations

MENDELIAN HYPERPHENYLALANINEMIA

1988 • 35 citations

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

1989 • 34 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

Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria

1988 • 13 citations