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. 1982 Sep 25;10(18):5421-7.
doi: 10.1093/nar/10.18.5421.

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion

A J Kinniburgh, L E Maquat, T Schedl, E Rachmilewitz, J Ross

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion

A J Kinniburgh et al. Nucleic Acids Res. .

Abstract

The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We have previously shown that the beta-globin mRNA of this patient is correctly spliced and polyadenylated, but rapidly turns over with a half-life of less than 30 min. We suggest that the rapid mRNA turnover is influenced by the deletion of this single nucleotide as well as by the nonsense codon.

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References

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