Three new β-globin gene promoter mutations identified through newborn screening
Three new β-globin gene promoter mutations identified through newborn screening
复制标题
DOI：
10.1080/03630260701284624
复制
发表时间：
2007-01-01
期刊：
影响因子：
1
通讯作者：
Waye, John S.
中科院分区：
文献类型：
--
作者：
Eng, Barry;Walker, Lynda;Waye, John S.
We report three new beta-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/beta(+)-thalassemia (that) (Hbs FSA). All three mutations are in close proximity to the conserved ATAA sequence located at Positions -31 to -28 relative to the mRNA Cap site. Two cases involved single base substitutions at positions -25 (G -> C) and -32 (C -> T). The remaining case involved the deletion of two bases (-AA) at positions -27 and -26.
