Abstract:
:In this study we present the first report of the detection of a new β-thalassemia (β-thal) mutation at codon 36 (-C) in the Chinese population. This frameshift mutation generates a TGA stop codon at position 60, resulting in a thalassemia phenotype. This is the first example of a premature stop codon at position 60 because of codon 36. The characterization of uncommon mutations is useful for the screening of β-thal carriers, genetic counseling and prenatal diagnosis.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Huang H,Xu L,Lin N,Xu J,He D,Li Y,Zheng L,Liu H,Lin Ydoi
10.3109/03630269.2010.526841subject
Has Abstractpub_date
2010-01-01 00:00:00pages
599-603issue
6eissn
0363-0269issn
1532-432Xjournal_volume
34pub_type
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