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Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene.

A beta-globin gene cloned from a person with beta-thalassemia contained a T----C substitution within the conserved sequence AATAAA that forms a portion of the recognition signal for endonucleolytic cleavage and polyadenylation of primary mRNA transcripts. By Northern blot analysis a novel beta-globi...

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Détails bibliographiques
Auteurs principaux: Orkin, S H, Cheng, T C, Antonarakis, S E, Kazazian, H H
Format: Artigo
Langue:Inglês
Publié: 1985
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC554207/
https://ncbi.nlm.nih.gov/pubmed/4018033
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