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Nucleic Acids Res. 1982 September 25; 10(18): 5421–5427.
PMCID: PMC320886

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

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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