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

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1992 • 150 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

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

1994 • 68 citations

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

1993 • 55 citations

Molecular defect in human erythropoietic protoporphyria with fatal liver failure

1993 • 51 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

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

1994 • 15 citations