A new beta-thalassaemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides.

doi:10.1111/j.1365-2141.1991.tb08012.x

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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 se...

Topics

Base Sequence
Child, Preschool
Codon
Female
Humans
Immunoblotting
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Polymerase Chain Reaction
Thalassemia

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