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    Nucleic Acids Res. 1982 Sep 25;10(18):5421-7.

    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.

    PMID:
    6292840
    [PubMed - indexed for MEDLINE]
    PMCID: PMC320886
    Free PMC Article

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