Article
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
The Journal of clinical investigation - 1 Feb 1995
Xu W, Warner C A, Desnick R J
Abstract excerpt
To investigate the molecular basis of the phenotypic heterogeneity in congenital erythropoietic porphyria, the mutations in the uroporphyrinogen III synthase gene from unrelated patients were determined. Six missense (L4F, Y19C, V82F, V99A, A104V, and G225S), a nonsense (Q249X), a frameshift (633insA), and two splicing mutations (IVS2+1 and IVS9 delta A + 4) were identified. When L4F, Y19C, V82F, V99A, A104V,...
Topics
- Adolescent
- Adult
- Alternative Splicing
- Base Sequence
- Child
- Child, Preschool
- Cloning, Molecular
- DNA Primers
- Exons
- Female
- Frameshift Mutation
- Genotype