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

Current protocols in molecular biology

1988 • 7,584 citations

Structure of the human ferrochelatase gene

1992 • 159 citations

Improved cloning efficiency of polymerase chain reaction (PCR) products after proteinase K digestion

1991 • 141 citations

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

1990 • 138 citations

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1991 • 116 citations

A molecular defect in human protoporphyria.

1992 • 88 citations

Hepatic protoporphyrin production in human protoporphyria

1980 • 69 citations

Direct selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigene.

1993 • 55 citations

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

1988 • 39 citations