A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region.
Agarwal S, Arya V, Stolle CA, Pradhan M
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. sarita@sgpgi.ac.in
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.
Published 19 November 2006 in Eur J Haematol, 77(6): 530-2.
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