Article
Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia.
Blood - 15 Apr 1994
Hall G W, Thein S
Abstract excerpt
We present in vivo evidence that there is no reduction in beta-mRNA accumulation in patients with nonsense codons in the terminal exon of the beta-globin gene. Using reverse transcriptase/polymerase chain reaction (RT-PCR), beta-globin cDNA was isolated from the reticulocytes of individuals heter...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Codon
- DNA, Complementary
- Exons
- Female
- Globins
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA, Messenger
- Restriction Mapping
- beta-Thalassemia