Molecular Genetics of Porphyries

The Metabolic Basis of Inherited Diseases

1972 • 1,762 citations

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

1988 • 313 citations

Tissue‐specific expression of porphobilinogen deaminase

1987 • 209 citations

IMMUNOREACTIVE UROPORPHYRINOGEN DECARBOXYLASE IN THE LIVER IN PORPHYRIA CUTANEA TARDA

1985 • 132 citations

HEPATOERYTHROPOIETIC PORPHYRIA: A NEW UROPORPHYRINOGEN DECARBOXYLASE DEFECT OR HOMOZYGOUS PORPHYRIA CUTANEA TARDA?

1981 • 124 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

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

1986 • 95 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

Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

1984 • 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

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease)

1990 • 64 citations

A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda

1989 • 58 citations

Porphyrins and the Porphyrias

2008 • 55 citations

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

1987 • 49 citations

IMMUNOREACTIVE UROPORPHYRINOGEN DECARBOXYLASE IN PORPHYRIA CUTANEA TARDA

1983 • 42 citations

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

1988 • 38 citations

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

1990 • 38 citations

Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase.

1986 • 33 citations

Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

1988 • 30 citations

Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda.

1983 • 25 citations

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

1987 • 20 citations

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

1988 • 16 citations

Molecular analysis of acute intermittent porphyria

1988 • 7 citations