Article
Identification of a novel mutation in the β-globin gene 3' untranslated region [+1,506 (A>C)] in a Japanese male with a heterozygous β-thalassemia phenotype.
Hemoglobin - 1 Jan 2012
Hino Minako, Yamashiro Yasuhiro, Hattori Yukio, Ito Hitomi, Nitta Takenori, Adhiyanto Chris, Matar Maryam, Naveed Mohammed
Abstract excerpt
β-Thalassemia (β-thal) is characterized by the absent or reduced production of β-globin chains. The precise molecular lesion that causes decreased β-globin synthesis in β(+)-thal is difficult to predict when mutations occur in the locus control region (LCR), the promoter, the introns or 3' untranslated regions (3'UTRs). Among them, the role of the 3'UTR of β-globin gene in mRNA stability is poorly understood,...
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