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Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

gamma delta beta-Thalassemia is a rare disorder of hemoglobin biosynthesis, characterized molecularly by partial or complete deletions of the beta-globin gene complex of 100 kilobases (kb) or greater. Common to all mutants described has been the deletion of the most-5' sequences of the beta-globin c...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Driscoll, M C, Dobkin, C S, Alter, B P
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1989
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298086/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2798417/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.19.7470
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