Article
[Molecular-genetic characteristics of alpha, beta and delta beta-thalassemias in 139 heterozygotes in 56 unrelated Czech and Slovak families (Priority description of 3 beta-thalassemia mutations, an extensive alpha-thalassemia 2 (18+ kb) deletion and a Swiss-type nondeletion hereditary persistence of hemoglobin F)].
Vnitrni lekarstvi - 1 Oct 1993
Indrák K, Divoký V, Brabec V, Indráková J, Svobodová M, Huisman T H
Abstract excerpt
In 135 subjects from 54 unrelated families of Czech and Slovak families the authors identified 11 different beta-thalassaemic alleles. In 25 families they proved a IVS I-1 (G-A) mutation. Another 4 "mediterranean" mutations: IVS II-1 (G-A), IVS II-745 (C-G); IVS I-110 (G-A) and mutations in the c...
Topics
- Base Sequence
- Chromosome Deletion
- Codon
- Czech Republic
- Fetal Hemoglobin
- Hemoglobinopathies
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Slovakia
- alpha-Thalassemia
- beta-Thalassemia