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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

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 ful...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Lanikova, Lucie, Kucerova, Jana, Indrak, Karel, Divoka, Martina, Issa, Jean-Pierre, Papayannopoulou, Thalia, Prchal, Josef T., Divoky, Vladimir
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4993193/
https://ncbi.nlm.nih.gov/pubmed/23878091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22383
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