Molecular genetics of erythropoietic protoporphyria

HIV-1/HIV-2 seronegativity in HIV-1 subtype 0 infected patients

1994 • 238 citations

Erythropoietic protoporphyria

1994 • 165 citations

Structure of the human ferrochelatase gene

1992 • 159 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

Rat liver ferrochelatase. Purification, properties, and stimulation by fatty acids.

1981 • 129 citations

Hepatobiliary implications and complications in protoporphyria, a 20-year study

1989 • 129 citations

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1991 • 116 citations

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

1996 • 98 citations

Orientation of ferrochelatase in bovine liver mitochondria

1985 • 89 citations

A molecular defect in human protoporphyria.

1992 • 88 citations

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

1992 • 83 citations

Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases.

1994 • 68 citations

Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22

1991 • 68 citations

Site-Directed Mutagenesis and Spectroscopic Characterization of Human Ferrochelatase: Identification of Residues Coordinating the [2Fe-2S] Cluster

1996 • 67 citations

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.

1998 • 63 citations

Molecular defect in human erythropoietic protoporphyria with fatal liver failure

1993 • 51 citations

Site-directed mutagenesis of human ferrochelatase: Identification of histidine-263 as a binding site for metal ions

1994 • 50 citations

Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure

1995 • 44 citations

Porphyrin Biosynthesis

1968 • 42 citations

Molecular Characterization of a Ferrochelatase Gene Defect Causing Anomalous RNA Splicing in Erythropoietic Protoporphyria

1994 • 37 citations

Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene

1993 • 35 citations

A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing

1993 • 35 citations

Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria

1994 • 33 citations

Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria

1993 • 31 citations

Four Novel Mutations in the Ferrochelatase Gene among Erythropoietic Protoporphyria Patients

1996 • 30 citations

Porphyrins and the Porphyrias

1997 • 30 citations

Porphyrias: Animal models and prospects for cellular and gene therapy

1995 • 29 citations

Molecular defects in erythropoietic protoporphyria with terminal liver failure

1994 • 28 citations

Deletion of the ferrochelatase gene in a patient with protoporphyria

1994 • 26 citations

A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria

1996 • 21 citations

Systematic screening for RNA with skipped exons - splicing mutations of the ferrochelatase gene

1995 • 19 citations

Erythropoietic Protoporphyria: Four Novel Frameshift Mutations in the Ferrochelatase Gene

1997 • 15 citations

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria

1994 • 15 citations

Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing

1995 • 15 citations

Amelioration of the Metabolic Defect in Erythropoietic Protoporphyria by Expression of Human Ferrochelatase in Cultured Cells

1995 • 15 citations

Ferrochelatase cDNA Delivered by Adenoviral Vector Corrects Biochemical Defect in Protoporphyric Cells

1995 • 14 citations

Molecular Analysis of Functional and Nonfunctional Genes for Human Ferrochelatase: Isolation and Characterization of a FECH Pseudogene and Its Sublocalization on Chromosome 3

1994 • 14 citations

Burst-forming units-erythroid from erythropoietic protoporphyria patients fluoresce under 405 nm light [letter]

1996 • 10 citations

Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria

1996 • 10 citations

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.

1998 • 5 citations

Similarity in mutations of the ferrochelatase gene between Dutch and Japanese patients with erythropoietic protoporphyria

1996 • 3 citations

FC103 A genetic study in erythropoietic protoporphyria

1997 • 2 citations