Article
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
Blood - 1 Mar 1992
Cai S P, Eng B, Francombe W H, Olivieri N F, Kendall A G, Waye J S, Chui D H
Abstract excerpt
Two novel beta-thalassemia mutations are described. The first mutation, found in an Italian family, is a G----A substitution in nucleotide (nt) +22 relative to the beta-globin gene Cap site. This mutation creates a cryptic ATG initiation codon, the utilization of which for translation would resul...
Topics
- Adult
- Base Sequence
- Chromosome Mapping
- Codon
- DNA
- Globins
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Protein Biosynthesis
- Thalassemia