Article
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
The Journal of clinical investigation - 1 Nov 1990
Garey J R, Harrison L M, Franklin K F, Metcalf K M, Radisky E S, Kushner J P
Abstract excerpt
Uroporphyrinogen decarboxylase (URO-D) is a cytosolic heme-biosynthetic enzyme that converts uroporphyrinogen to coproporphyrinogen. Defects at the uroporphyrinogen decarboxylase locus cause the human genetic disease familial porphyria cutanea tarda. A splice site mutation has been found in a ped...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Exons
- Genes
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Porphyrias
- Protein Biosynthesis
- Skin Diseases
- Uroporphyrinogen Decarboxylase