Article
Polymorphic pattern of the (AT)X(T)Y motif at -530 5' to the beta-globin gene in over 40 patients homozygous for various beta-thalassemia mutations.
American journal of hematology - 1 Jan 1994
Dimovski A J, Adekile A D, Divoky V, Baysal E, Huisman T H
Abstract excerpt
Nucleotide sequence analysis of the 5' beta-globin gene flanking region has been carried out for numerous homozygous beta-thalassemia patients with different mutations and of various ethnic backgrounds. Four different rearrangements were found associated with numerous beta-thalassemia mutations....
Topics
- Adult
- Base Sequence
- Codon
- Female
- Fetal Hemoglobin
- Globins
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Promoter Regions, Genetic
- Repetitive Sequences, Nucleic Acid
- beta-Thalassemia