Frameshift Codon 5 [FSC-5 (−CT)] Thalassemia; a Novel Mutation Detected in a Greek Patient
- 1 January 1989
- journal article
- research article
- Published by Taylor & Francis in Hemoglobin
- Vol. 13 (6) , 597-604
- https://doi.org/10.3109/03630268908993110
Abstract
Sequence analysis and dot-blot hybridization of DNA from a Greek patient with a transfusion dependent thalassemia revealed the combination of a βIVS-I-1 G→-A mutation (β˚-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 β˚-thalassemia).This publication has 23 references indexed in Scilit:
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