Article
The +1,506 (A>C) mutation in the 3' untranslated region affects β-globin expression.
Hemoglobin - 1 Jan 2012
Hino Minako, Ito Hitomi, Yamashiro Yasuhiro, Hattori Yukio, Nitta Takenori, Adhiyanto Chris
Abstract excerpt
The 3' untranslated region (3'UTR) is known to be important to mRNA stability but the stabilization mechanism on the β-globin gene is not fully elucidated. We speculated in our previous report that +1,506 (A>C) mutation (HGVS nomenclature: *32A>C) on the β-globin 3'UTR causes β-thalassemia (β-thal) in order to destabilize the mRNA. To investigate further, we studied the expression efficiency for the mutation with...
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