Article
Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.
Human genetics - 1 Apr 1995
Schneider-Yin X, Schäfer B W, Tönz O, Minder E I
Abstract excerpt
Erythropoietic protoporphyria (EPP), attributable to deficiency of ferrochelatase activity (FECH), is characterised mainly by cutaneous photosensitivity. To define the molecular defect in two EPP-affected siblings and their parents in a Swiss family, ferrochelatase cDNA was amplified by the polym...
Topics
- Adolescent
- Adult
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Female
- Ferrochelatase
- Humans
- Isoenzymes
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Porphyria, Hepatoerythropoietic