Abstract:
:We report the identification of two different mutations involving the first nucleotide of intron 1 of the alpha2-globin gene: IVS-I-1 G-->A and G-->T. The available data indicated that both mutations reduce the efficiency of proper mRNA splicing, resulting in alpha(+)-thalassemia (alpha(+)-thal).
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Waye JS,Eng B,Dutly F,Frischknecht Hdoi
10.3109/03630260903333377subject
Has Abstractpub_date
2009-01-01 00:00:00pages
519-22issue
6eissn
0363-0269issn
1532-432Xjournal_volume
33pub_type
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