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Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.

Beta-globin gene mutations which alter normal globin RNA splicing have confirmed the necessity of invariant nucleotides GT at donor splice sites. Functional consequences of point mutations in the invariant AG acceptor splice site have not been determined. We have isolated and characterized a beta-gl...

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Bibliographische Detailangaben
Hauptverfasser: Atweh, G F, Anagnou, N P, Shearin, J, Forget, B G, Kaufman, R E
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1985
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC341034/
https://ncbi.nlm.nih.gov/pubmed/2987809
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