A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family Academic Article uri icon

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abstract

  • A new beta zero-thalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSII-654 C----T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.

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publication date

  • May 1991