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Article

G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.

Nature - 1 Jan 2000

Gelinas R, Endlich B, Pfeiffer C, Yagi M, Stamatoyannopoulos G

Abstract excerpt

The sequence 5'TTGGPyCAAT 3' (the 'CCAAT box') is a constituent of the promoter region of many eukaryotic and prokaryotic genes and is believed to play a part in promoter function. A characteristic of the two fetal human globin genes (A gamma and G gamma) is a duplication of a 12-base pair (bp) sequence containing the CCAAT box. Here we report a G----A substitution in the TTG sequence of the distal CCAAT box of...

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Identifiers

PMID: 2578619
DOI: 10.1038/313323a0

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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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G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.PMID 2578619Read ↗

A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.Semantic proximity Read ↗

G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.Semantic proximity Read ↗

An A gamma globin promoter (four base-pair deletion) mutant shows linked polymorphic changes throughout the A gamma gene.Semantic proximity Read ↗

Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin.Semantic proximity Read ↗

A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin.Semantic proximity Read ↗

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 ↗

A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma.Semantic proximity Read ↗

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.Semantic proximity Read ↗

A role for the distal CCAAT box of the gamma-globin gene in Hb switching.Semantic proximity Read ↗

Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.Semantic proximity Read ↗

Molecular analysis of the human fetal-to-adult globin switching.Semantic proximity Read ↗

The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene.Semantic proximity Read ↗

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