Article
A new beta-thalassaemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides.
British journal of haematology - 1 Sept 1991
Deidda G, Novelletto A, Hafez M, el-Ziny M, Terrenato L, Felicetti L
Abstract excerpt
A previously undescribed mutation (-1, +3, codon 24) causing beta-thalassaemia was identified in an Egyptian patient. It consists in the concomitant deletion of a G in codon 24 and its replacement with the new trinucleotide CAC, thus resulting in the shift of the beta-globin reading frame. The sequence of the chromosome of interest was isolated from the homologous one by means of selective hybridization to an...
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