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

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

1988 • 17,059 citations

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

1989 • 1,295 citations

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1987 • 944 citations

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

1989 • 747 citations

[30] Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1987 • 491 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

Nucleotide sequence of thehemClocus encoding porpbobilinogen deaminase ofEscherichia coliK12

1986 • 102 citations

Isolation and characterisation of a cDNA clone for a chlorophyll synthesis enzyme from Euglena gracilis

1989 • 87 citations

The Mouse Porphobilinogen Deaminase Gene

1989 • 76 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

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

1991 • 47 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

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form

1988 • 30 citations

The role of arginyl residues in porphyrin binding to ferrochelatase.

1986 • 26 citations