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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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Detalles Bibliográficos
Publicado en:EMBO J
Principais autores: Orkin, S H, Cheng, T C, Antonarakis, S E, Kazazian, H H
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 1985
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Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC554207/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4018033/
https://ncbi.nlm.nih.govhttps://doi.org/10.1002/j.1460-2075.1985.tb03650.x
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