Article
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.
The Journal of investigative dermatology - 1 Feb 1996
Henriksson M, Timonen K, Mustajoki P, Pihlaja H, Tenhunen R, Peltonen L, Kauppinen R
Abstract excerpt
A novel mutation was identified by direct sequencing of genomic polymerase chain reaction products in each of four Finnish erythropoietic protoporphyria families. All four mutations, including two deletions (751delGAGAA and the first de novo mutation, 1122delT) and two point mutations (286C-->T a...
Topics
- Base Sequence
- Female
- Ferrochelatase
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Porphyria, Hepatoerythropoietic