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Article

Increased protein binding to a -530 mutation of the human beta-globin gene associated with decreased beta-globin synthesis.

American journal of hematology - 1 Jan 1991

Berg P E, Mittelman M, Elion J, Labie D, Schechter A N

Abstract excerpt

Although some cases of the syndrome of hereditary persistence of fetal hemoglobin (HPFH) have been correlated with mutations causing a change in the binding of trans-acting factors to DNA sequences flanking the gamma-globin gene, this mechanism has not been described in beta-thalassemias upstream of the canonical promoter of the beta-globin gene. In this report we describe such a change in binding of a protein...

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PMID: 1984681
DOI: 10.1002/ajh.2830360109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Increased protein binding to a -530 mutation of the human beta-globin gene associated with decreased beta-globin synthesis.PMID 1984681Read ↗

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A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.Semantic proximity Read ↗

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The upstream region of the human gamma-globin gene promoter. Identification and functional analysis of nuclear protein binding sites.Semantic proximity Read ↗

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Increased expression of the G gamma and A gamma globin genes associated with a mutation in the A gamma enhancer.Semantic proximity Read ↗

G gamma A gamma (beta+) hereditary persistence of fetal hemoglobin: the G gamma -158 C-->T mutation in cis to the -175 T-->C mutation of the A gamma-globin gene results in increased G gamma-globin synthesis.Semantic proximity Read ↗

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