A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family
- 1 May 1991
- journal article
- Published by Wiley in American Journal of Hematology
- Vol. 37 (1) , 6-8
- https://doi.org/10.1002/ajh.2830370103
Abstract
A 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.Keywords
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