A novel Indian ?-thalassemia mutation in the CACCC box of the promoter region
EUROPEAN JOURNAL OF HAEMATOLOGY（2006）
Abstract
This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for beta-globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.
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Key words
beta-thalassemia,sequencing,promoter region,polymerase chain reaction
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