Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

The "megaprimer" method of site-directed mutagenesis.

1990 • 1,174 citations

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support

1989 • 747 citations

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1993 • 692 citations

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1984 • 586 citations

Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines

1984 • 355 citations

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

1988 • 313 citations

Cis- and trans-acting elements involved in the regulation of the erythroid promoter of the human porphobilinogen deaminase gene.

1989 • 272 citations

Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism

1972 • 220 citations

Tissue‐specific expression of porphobilinogen deaminase

1987 • 209 citations

Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site

1992 • 197 citations

Heme Biosynthesis in Intermittent Acute Porphyria: Decreased Hepatic Conversion of Porphobilinogen to Porphyrins and Increased Delta Aminolevulinic Acid Synthetase Activity

1970 • 173 citations

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1986 • 141 citations

Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates.

1980 • 133 citations

Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria

1972 • 131 citations

A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1989 • 123 citations

Tissue-specific splicing mutation in acute intermittent porphyria.

1989 • 122 citations

Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene

1992 • 118 citations

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

1991 • 109 citations

Hydroxymethylbilane Synthase: Complete Genomic Sequence and Amplifiable Polymorphisms in the Human Gene

1993 • 104 citations

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.

1995 • 103 citations

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

1991 • 102 citations

The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals.

1971 • 100 citations

Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.

1988 • 95 citations

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1989 • 73 citations

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

1990 • 70 citations

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

1992 • 69 citations

Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria

1981 • 68 citations

Normal Erythrocyte Uroporphyrinogen I Synthase in a Kindred with Acute Intermittent Porphyria

1981 • 65 citations

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

1985 • 64 citations

Assignment of human porphobilinogen deaminase to 11q24.1→q24.2 by in situ hybridization and gene dosage studies

1991 • 63 citations

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

1981 • 62 citations

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

1993 • 61 citations

Mutagenesis of arginine residues in the catalytic cleft of Escherichia coli porphobilinogen deaminase that affects dipyrromethane cofactor assembly and tetrapyrrole chain initiation and elongation

1991 • 59 citations

Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.

1982 • 57 citations

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

1991 • 47 citations

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

1994 • 46 citations

Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

1979 • 45 citations

Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.

1985 • 45 citations

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

1993 • 42 citations

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

1992 • 40 citations

Acute intermittent porphyria caused by a C?T mutation that produces a stop codon in the porphobilinogen deaminase gene

1990 • 38 citations

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

1992 • 38 citations

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

1988 • 38 citations

Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase

1993 • 36 citations

Red Blood Cell Porphobilinogen Deaminase in the Evaluation of Acute Intermittent Porphyria

1987 • 31 citations

Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: A Bayesian approach

1984 • 29 citations

Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen‐I‐synthase activity

1985 • 29 citations

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria

1993 • 27 citations

Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping

1993 • 27 citations

PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D)

1991 • 24 citations

A MspI polymorphism for the human porphobilinogen deaminase gene

1987 • 23 citations

RFLP analysis of three different types of acute intermittent porphyria

1990 • 21 citations

A PstI polymorphism for the human porphobilinogen deaminase gene (PBG)

1987 • 20 citations

Regulated expression of the overlapping ubiquitous and erythroid transcription units of the human porphobilinogen deaminase (PBG-D) gene introduced into non-erythroid and erythroid cells

1989 • 18 citations

Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction

1990 • 16 citations

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

1990 • 15 citations

PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)

1991 • 15 citations

Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene

1993 • 8 citations