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  • Title: A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family.
    Author: Jia S, Lao X, Li W, Ma J, Mo Q, Xu X.
    Journal: Haematologica; 2003 Oct; 88(10):1191-3. PubMed ID: 14555318.
    Abstract:
    We provide the first description of a Chinese family with three heterozygotes for a rare beta-thalassemia mutation previously observed in a Portuguese carrier. The mutation (-90 C-T) changes the conserved promoter sequence within the proximal CACCC box of the beta-globin gene; this can reduce beta-globin transcription significantly.
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