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Presence of gene for β globin in homozygous β0 thalassaemia

Abstract

In one southern Italian and one Pakistani patient with homozygous β0 thalassaemia in which no detectable β-globin synthesis occurs and no β-globin messenger RNA is found, the gene for (β globin has been shown to be present using complementary DNA. This demonstrates that for these patients the imbalance in chain synthesis is not attributable to a gene deletion.

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Tolstoshev, P., Mitchell, J., Lanyon, G. et al. Presence of gene for β globin in homozygous β0 thalassaemia. Nature 259, 95–98 (1976). https://doi.org/10.1038/259095a0

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