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Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient
P Kollia1, J M Gonzalez-Redondo, T A Stoming
1First Department of Medicine, University of Athens School of Medicine, Laikon Hospital, Greece.
Hemoglobin
|January 1, 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).