Article

Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element

1991-05-01

Abstract excerpt

Abstract A patient with homozygous beta thalassemia of German/Italian descent was found to be doubly heterozygous for the common IVS1–110 G----A mutation of the beta globin gene and for a novel C----T mutation of the proximal CACCC-box of the beta globin gene promoter at position -87 relative to the transcription start site (cap). Transcription analysis in an HeLa cell transfection assay indicated a 45% to 51% res...

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Literature Corpus work: abba1871-8400-5392-b604-3d5c3df6f0ce
DOI: 10.1182/blood.v77.9.2054.2054

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