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A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.

Authors :
Cai SP
Chui DH
Ng J
Poon AO
Freedman MH
Olivieri NF
Source :
American journal of hematology [Am J Hematol] 1991 May; Vol. 37 (1), pp. 6-8.
Publication Year :
1991

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.

Details

Language :
English
ISSN :
0361-8609
Volume :
37
Issue :
1
Database :
MEDLINE
Journal :
American journal of hematology
Publication Type :
Academic Journal
Accession number :
1850955
Full Text :
https://doi.org/10.1002/ajh.2830370103