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. 1979 Jun 25;6(8):2749–2760. doi: 10.1093/nar/6.8.2749

The structure of the human beta-globin gene in beta-thalassaemia.

R A Flavell, R Bernards, J M Kooter, E de Boer, P F Little, G Annison, R Williamson
PMCID: PMC327890  PMID: 461203

Abstract

Twenty-one cases of beta 0 and beta +-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the beta- and delta-globin genes could be detected. However, in a single Asian case of beta 0-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a beta-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3' end of the structural gene including the EcoRI restriction site within the beta-globin coding sequence.

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Selected References

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