A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family Journal Articles uri icon

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abstract

  • AbstractA new β°‐ halassemia 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 β°‐thalassemia mutation, has the phenotype of severe β‐thalassemia major.

authors

publication date

  • May 1991