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The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family.

Authors :
Li D
Liao C
Li J
Tang X
Source :
Hemoglobin [Hemoglobin] 2006; Vol. 30 (2), pp. 171-3.
Publication Year :
2006

Abstract

We have found an example of the nonsense beta-thalassemia (thal) mutation at codon 37 (TGG-->TAG; Trp-->Stop) in a Chinese family. The fetus, who inherited both parents' beta-thalassemic alleles, was a compound heterozygote for the codons 41/42 (-TCTT) and codon 37 (TGG-->TAG) mutations, and presented with the phenotype of severe beta-thal.

Details

Language :
English
ISSN :
0363-0269
Volume :
30
Issue :
2
Database :
MEDLINE
Journal :
Hemoglobin
Publication Type :
Academic Journal
Accession number :
16798641
Full Text :
https://doi.org/10.1080/03630260600642385