Article
The G----A mutation at position +22 3' to the Cap site of the beta-globin gene as a possible cause for a beta-thalassemia.
Hemoglobin - 1 Jan 1991
Oner R, Agarwal S, Dimovski A J, Efremov G D, Petkov G H, Altay C, Gurgey A, Huisman T H
Abstract excerpt
We describe the occurrence of a chromosome with a G----A mutation at position +22 relative to the Cap site that was found in five patients with beta-thalassemia. All patients had a common type of beta-thalassemia mutation on the second chromosome, namely the frameshift at codon 8 (-AA), the IVS-I...
Topics
- Alleles
- Base Sequence
- Bulgaria
- Child, Preschool
- DNA Mutational Analysis
- Female
- Fetal Hemoglobin
- Globins
- Greece
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- RNA Caps
- Thalassemia
- Turkey