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Article

Three new beta-globin gene promoter mutations identified through newborn screening.

Hemoglobin - 1 Jan 2007

Eng Barry, Walker Lynda, Nakamura Lisa M, Hoppe Carolyn, Azimi Mahin, Lee Helen, Waye John S

Abstract excerpt

We report three new beta-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/beta(+)-thalassemia (thal) (Hbs FSA). All three mutations are in close proximity to the conserved ATAA sequence located at positions -31 to -28 relative to the mRNA Ca...

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Identifiers

PMID: 17486493
DOI: 10.1080/03630260701284624

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17486493-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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