Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Organization and Expression of Eucaryotic Split Genes Coding for Proteins

1981 • 4,730 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1986 • 1,863 citations

Molecular basis of base substitution hotspots in Escherichia coli

1978 • 1,185 citations

The CpG dinucleotide and human genetic disease

1988 • 946 citations

High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment

1984 • 898 citations

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

1985 • 325 citations

A general method of site-specific mutagenesis using a modification of the Thermus aquaticus polymerase chain reaction

1989 • 321 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

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1988 • 146 citations

Heat- and alkali-induced deamination of 5-methylcytosine and cytosine residues in DNA

1982 • 130 citations

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

1987 • 129 citations

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

1975 • 105 citations

The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis

1987 • 99 citations

The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis

1987 • 95 citations

CpG dinucleotides are mutation hot spots in phenylketonuria

1989 • 86 citations

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

1989 • 82 citations

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

1990 • 79 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

Biochemical characterization of recombinant human phenylalanine hydroxylase produced in Escherichia coli.

1987 • 56 citations

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

1987 • 56 citations

Phenylketonuria: detection of a frequent haplotype 4 allele mutation

1989 • 47 citations

Novel PKU mutation on haplotype 2 in French-Canadians.

1989 • 46 citations

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1988 • 44 citations

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

1989 • 43 citations

A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA

1989 • 42 citations

MENDELIAN HYPERPHENYLALANINEMIA

1988 • 35 citations

[27] Use of the CAT reporter gene for optimization of gene transfer into eukaryotic cells

1987 • 26 citations