Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient.

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).

Cite this paper

@article{Kollia1989FrameshiftC5, title={Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient.}, author={Panagoula Kollia and Jose M. Gonzalez-Redondo and Terrance A. Stoming and Dimitris Loukopoulos and Constantin Politis and T. H. Huisman}, journal={Hemoglobin}, year={1989}, volume={13 6}, pages={597-604} }