Article
Unusually severe heterozygous beta-thalassemia: evidence for an interacting gene affecting globin translation.
Blood - 1 Nov 1998
Ho P J, Hall G W, Watt S, West N C, Wimperis J W, Wood W G, Thein S L
Abstract excerpt
A common beta-thalassemia mutation in Asian populations is the C --> T substitution at position 654 of intron 2, which leads to the activation of two cryptic splicing sites and the incorporation of 73 extra nucleotides into the mutant mRNA. Like most beta-thalassemia mutations, it normally exhibi...
Topics
- Adult
- Animals
- Asian People
- Cell-Free System
- Cells, Cultured
- Child, Preschool
- China
- DNA, Complementary
- Erythroid Precursor Cells
- Female
- Gene Expression Regulation
- Globins
- Heterozygote
- Humans
- Male
- Middle Aged
- Phenotype
- Point Mutation