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Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient.
- Source :
-
Hemoglobin [Hemoglobin] 1989; Vol. 13 (6), pp. 597-604. - Publication Year :
- 1989
-
Abstract
- Sequence analysis and dot-blot hybridization of DNA from a Greek patient with a transfusion dependent thalassemia revealed the combination of a beta IVS-I-1 G----A mutation (beta(0) -thalassemia) and a hitherto undescribed frameshift mutation; the latter concerns the absence of a CT dinucleotide from codon 5 and results in a termination signal at the new codon 21 (also a beta (0)-thalassemia).
Details
- Language :
- English
- ISSN :
- 0363-0269
- Volume :
- 13
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 2606727
- Full Text :
- https://doi.org/10.3109/03630268908993110