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A novel Indian β ‐thalassemia mutation in the CACCC box of the promoter region
Author(s) -
Agarwal Sarita,
Arya Vandana,
Stolle Catherine A.,
Pradhan Mandakini
Publication year - 2006
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.0902-4441.2006.t01-1-ejh2923.x
Subject(s) - mutation , thalassemia , promoter , genetics , biology , gene , gene expression
This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for β ‐globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.