Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

Statistics in Medicine: Calculating confidence intervals for relative risks (odds ratios) and standardised ratios and rates

1988 • 728 citations

ERYTHROPOIETIC PROTOPORPHYRIA A NEW PORPHYRIA SYNDROME WITH SOLAR URTICARIA DUE TO PROTOPORPHYRINqMIA

1961 • 433 citations

The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.

1988 • 247 citations

Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.

1975 • 244 citations

Clonality Analysis of Hematopoiesis in Essential Thrombocythemia: Advantages of Studying T Lymphocytes and Platelets

1997 • 164 citations

Structure of the human ferrochelatase gene

1992 • 159 citations

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

1990 • 138 citations

Genetic aspects of erythropoietic protoporphyria

1984 • 135 citations

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria

1998 • 132 citations

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1991 • 116 citations

Identical mutations and phenotypic variation

1997 • 109 citations

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

1993 • 101 citations

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

1996 • 98 citations

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

1992 • 83 citations

A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene.

1994 • 78 citations

Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype

1997 • 76 citations

Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.

1997 • 74 citations

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

1991 • 68 citations

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

1990 • 66 citations

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.

1991 • 65 citations

An HPLC assay for rat liver ferrochelatase activity

1987 • 55 citations

Porphyrins and the Porphyrias

2008 • 55 citations

Four Novel Mutations in the Ferrochelatase Gene among Erythropoietic Protoporphyria Patients

1996 • 30 citations

Analysis of the Human Ferrochelatase Promoter in Transgenic Mice

1998 • 26 citations

Recessive inheritance of erythropoietic protoporphyria with liver failure

1994 • 26 citations

DEMONSTRATION OF THE DEFECT IN LIVER AND CULTURED SKIN FIBROBLASTS

1975 • 20 citations

Differential termination of primer extension: a novel, quantifiable method for detection of point mutations

1992 • 12 citations

Intrapancreatic turnover of recombinant human pancreatic secretory trypsin inhibitor in experimental porcine pancreatitis

1995 • 7 citations

Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH)

1993 • 5 citations