启动子区域CACCC框中的一种新型印度β地中海贫血突变。
A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region.
作者信息
Agarwal Sarita, Arya Vandana, Stolle Catherine A, Pradhan Mandakini
机构信息
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
出版信息
Eur J Haematol. 2006 Dec;77(6):530-2. doi: 10.1111/j.0902-4441.2006.t01-1-EJH2923.x. Epub 2006 Oct 17.
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.
摘要
这是关于β-珠蛋白启动子区域CACCC盒在印度人群中一种此前未被描述的突变的首次报告，该突变与一种常见突变相结合，在这个家族的后代中导致了重型地中海贫血。
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