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Article

Thalassaemia mutations within the 5'UTR of the human beta-globin gene disrupt transcription.

British journal of haematology - 1 Mar 2004

Sgourou Argyro, Routledge Samantha, Antoniou Michael, Papachatzopoulou Adamantia, Psiouri Lambrini, Athanassiadou Aglaia

Abstract excerpt

The mechanisms by which mutations within the 5' untranslated region (UTR) of the human beta-globin gene (HBB) cause thalassaemia are currently not well understood. We present here the first comprehensive comparative functional analysis of four 'silent' mutations in the human beta-globin 5'UTR, namely: +10(-T), +22(G --> A), +33(C --> G) and +(40-43)(-AAAC), which are present in patients with beta-thalassaemia...

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Identifiers

PMID: 15009072
DOI: 10.1111/j.1365-2141.2004.04835.x

Genes

HBB

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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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Thalassaemia mutations within the 5'UTR of the human beta-globin gene disrupt transcription.PMID 15009072Read ↗

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A +8 (-->CT) mutation within the 5' untranslated region of beta-globin down-regulates the mRNA transcription.Semantic proximity Read ↗

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