Molecular genetics of disorders of haem biosynthesis.

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Globin gene regulation and switching: Circa 1990

1990 • 463 citations

Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA.

1991 • 374 citations

Identification of a novel iron-responsive element in murine and human erythroid delta-aminolevulinic acid synthase mRNA.

1991 • 349 citations

Cellular regulation of the iron-responsive element binding protein: disassembly of the cubane iron-sulfur cluster results in high-affinity RNA binding.

1992 • 324 citations

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

1988 • 313 citations

Regulation by Heme of Mitochondrial Protein Transport Through a Conserved Amino Acid Motif

1993 • 279 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

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

1992 • 164 citations

Structure of the human ferrochelatase gene

1992 • 159 citations

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1986 • 141 citations

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

1990 • 138 citations

Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.

1991 • 132 citations

Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.

1986 • 125 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

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1991 • 116 citations

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

1991 • 109 citations

Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.

1986 • 107 citations

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

1995 • 103 citations

Laboratory Investigation of the Porphyrias

1990 • 98 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

A molecular defect in human protoporphyria.

1992 • 88 citations

The sideroblastic anemias.

1970 • 85 citations

The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.

1992 • 83 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

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.

1990 • 69 citations

Structure of the gene for human uroporphyrinogen decarboxylase

1987 • 67 citations

Genetic Heterogeneity in Erythropoietic Protoporphyria: A Study of the Enzymatic Defect in Nine Affected Families

1990 • 66 citations

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

1990 • 64 citations

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

1991 • 63 citations

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

1992 • 63 citations

Two different genes encode δ-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes

1990 • 63 citations

Amino Acid Transport in Plasma‐Membrane Vesicles from Rat Liver

1980 • 62 citations

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.

1992 • 62 citations

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

1993 • 61 citations

Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing.

1992 • 60 citations

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2?q26.3

1991 • 53 citations

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

1991 • 51 citations

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

1987 • 49 citations

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

1992 • 48 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

The functional size of ferrochelatase determined in situ by radiation inactivation.

1991 • 45 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

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

1993 • 36 citations

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

1992 • 33 citations

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

1992 • 31 citations

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

1991 • 30 citations

Denaturing Gradient Gel Electrophoresis for Rapid Detection of Latent Carriers of a Subtype of Acute Intermittent Porphyria with Normal Erythrocyte Porphobilinogen Deaminase Activity

1992 • 28 citations

Sideroblastic Anemias

2017 • 25 citations

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

1991 • 24 citations

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity

1990 • 23 citations

Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyria.

1991 • 21 citations

RFLP analysis of three different types of acute intermittent porphyria

1990 • 21 citations

Assignment of the human coproporphyrinogen oxidase to chromosome 9

1983 • 21 citations

Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14

1988 • 17 citations

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

1991 • 15 citations

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

1990 • 15 citations

Molecular analysis of acute intermittent porphyria

1988 • 7 citations

TaqI polymorphism at the human preproendothelin-1 gene (EDN1)

1991 • 4 citations