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

The Metabolic Basis of Inherited Diseases

1972 • 1,762 citations

Rat Insulin Genes: Construction of Plasmids Containing the Coding Sequences

1977 • 1,252 citations

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

1988 • 313 citations

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

1992 • 197 citations

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1986 • 141 citations

Disorders of Porphyrin Metabolism.

1988 • 141 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

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 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

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

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

1990 • 38 citations

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form

1988 • 30 citations

Molecular Genetics of Porphyries

1990 • 25 citations

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

1991 • 24 citations

The Acute Porphyrias

1987 • 24 citations

RFLP analysis of three different types of acute intermittent porphyria

1990 • 21 citations

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

1989 • 20 citations

CRIM-positive mutations of acute intermittent porphyria in Finland

1992 • 15 citations