Article
A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F.
Molecular and cellular biology - 1 Jul 2008
Chen Zhiyi, Luo Hong-Yuan, Basran Raveen K, Hsu Tien-Huei, Mang Daniel W H, Nuntakarn Lalana, Rosenfield Cathy G, Patrinos George P, Hardison Ross C, Steinberg Martin H, Chui David H K
Abstract excerpt
Increased fetal hemoglobin (Hb F; alpha(2)gamma(2)) production in adults can ameliorate the clinical severity of sickle cell disease and beta-thalassemia major. Thus, understanding the regulation of gamma-globin gene expression and its silencing in adults has potential therapeutic implications. We studied a father and son in an Iranian-American family who had elevated Hb F levels and found a novel T-to-G...
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