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The deletion of the distal CCAAT box region of the A gamma-globin gene in black HPFH abolishes the binding of the erythroid specific protein NFE3 and of the CCAAT displacement protein.

Non-deletion Hereditary Persistence of Fetal Hemoglobin (HPFH) is characterized by great elevation of the synthesis, in adult age, of fetal hemoglobin (HbF), of either the A gamma or G gamma type. Strong genetic evidence indicates point mutations in the G gamma- or A gamma-globin promoter as respons...

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Dettagli Bibliografici
Autori principali: Mantovani, R, Superti-Furga, G, Gilman, J, Ottolenghi, S
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1989
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC318359/
https://ncbi.nlm.nih.gov/pubmed/2476717
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