A promoter mutation, C → T at position -92, leading to silent /3-thalassaemia

Author:

ROSATELLI MARIA CRISTINA,FAA VALERIA,MELONI ALESSANDRA,FIORENZA FLAVIA,GALANELLO RENZO,GASPERINI DANIELA,AMENDOLA GIOVANNI,CAO ANTONIO

Publisher

Wiley

Subject

Hematology

Reference8 articles.

1. A mild type of Hb S-/?+-thalassemia [-92(C -? T)l in a Sicilian family;Divoky;American Journal of Hematology,1993

2. Analysis of /?-thalassemia mutant DNA interactions with erythroid Kriippel-like factor (EKLF), and erythroid cell-specific transcription factor;Feng;Journal of Biological Chemistry,1994

3. AC-T substitution at nt -101 in a conserved DNA sequence of the promoter region of the /3-globin gene is associated with ‘silent’ /^-thalassemia;Gonzales-Redondo;Blood,1989

4. AC-tG mutation at nt position 6 3' to the terminating codon may be the cause of a silent /3-thalassemia;Jankovic;International Journal of Hematology,1991

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