Article
β-Thalassemia due to intronic LINE-1 insertion in the β-globin gene (HBB): molecular mechanisms underlying reduced transcript levels of the β-globin(L1) allele.
Human mutation - 1 Oct 2013
Lanikova Lucie, Kucerova Jana, Indrak Karel, Divoka Martina, Issa Jean-Pierre, Papayannopoulou Thalia, Prchal Josef T, Divoky Vladimir
Abstract excerpt
We describe the molecular etiology of β(+)-thalassemia that is caused by the insertion of the full-length transposable element LINE-1 (L1) into the intron-2 of the β-globin gene (HBB). The transcript level of the affected β-globin gene was severely reduced. The remaining transcripts consisted of full-length, correctly processed β-globin mRNA and a minute amount of three aberrantly spliced transcripts with a...
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