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Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia?

Nonsense mutations of the beta-globin gene are a common cause of beta-thalassemia. It is a hallmark of these mutations not only to cause a lack of protein synthesis but also a reduction of mRNA expression. Both the pathophysiologic significance and the underlying mechanisms for this surprising pheno...

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Detalhes bibliográficos
Main Authors: Kugler, W, Enssle, J, Hentze, M W, Kulozik, A E
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC306691/
https://ncbi.nlm.nih.gov/pubmed/7885837
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