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