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The structure of the human beta-globin gene in beta-thalassaemia.
Authors:R A Flavell  R Bernards  J M Kooter  E de Boer  P F Little  G Annison  and R Williamson
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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