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

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Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

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

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A rapid procedure for extracting genomic DNA from leukocytes

1991 • 394 citations

Diminished erythroid ferrochelatase activity in protoporphyria.

1975 • 161 citations

Structure of the human ferrochelatase gene

1992 • 159 citations

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

1990 • 138 citations

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Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1991 • 116 citations

The liver in protoporphyria

1988 • 115 citations

Free erythrocyte porphyrins in the detection of undue absorption of Pb and of Fe deficiency.

1977 • 107 citations

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.

1990 • 88 citations

A molecular defect in human protoporphyria.

1992 • 88 citations

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

1992 • 83 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

BIOCHEMICAL AND FLUORESCENCE-MICROSCOPY SCREENING-TESTS FOR ERYTHROPOIETIC PROTOPORPHYRIA

1965 • 61 citations

Molecular defect in human erythropoietic protoporphyria with fatal liver failure

1993 • 51 citations

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

1991 • 45 citations

Zinc chelatase in human lymphocytes: Detection of the enzymatic defect in erythropoietic protoporphyria

1988 • 39 citations

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

1993 • 35 citations

A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain

1991 • 33 citations

Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient

1991 • 15 citations

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

1993 • 5 citations