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A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.

beta 0-Thalassemia is a heterogeneous group of disorders associated with absence of beta-globin. In a survey of DNAs from patients with beta 0-thalassemia of diverse ethnic origins, a change at the splice junction at the 5' end of the large intervening sequence (IVS 2) of the human beta-globin gene...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Baird, M, Driscoll, C, Schreiner, H, Sciarratta, G V, Sansone, G, Niazi, G, Ramirez, F, Bank, A
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1981
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC319760/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6270663/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.78.7.4218
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