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

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

1988 • 17,059 citations

Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase

1988 • 814 citations

Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs

1987 • 212 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

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

1988 • 114 citations

Uroporphyrinogen Decarboxylase Structural Mutant (Gly281→Glu) in a Case of Porphyria

1986 • 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

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

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

1987 • 49 citations

Evidence that the pyrromethane cofactor of hydroxymethylbilane synthase (porphobilinogen deaminase) is bound to the protein through the sulphur atom of cysteine-242

1988 • 46 citations

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

1990 • 38 citations

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

1988 • 38 citations

Availability of porphobilinogen controls appearance of porphobilinogen deaminase activity in Escherichia coli K-12

1988 • 25 citations

Enzymes of the heme biosynthesis pathway: recent advances in molecular genetics.

1988 • 16 citations

Sequence analysis of a human gene responsible for drug resistance: a rapid method for manual and automated direct sequencing of products generated by the polymerase chain reaction.

1989 • 14 citations