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In vitro expression of beta-thalassaemia gene (IVS1-1G>C) reveals complete inactivation of the normal 5' splice site and alternative aberrant RNA splicing.

Annals of clinical biochemistry - 1 Nov 2007

Fujihara Noriko, Yamauchi Kazuyoshi, Hirota-Kawadobora Masako, Ishikawa Shinsuke, Tozuka Minoru, Ishii Eizaburo, Katsuyama Tsutomu, Okumura Nobuo, Taniguchi Shunichiro

Abstract excerpt

We previously reported a case of heterozygous beta-thalassaemia with IVS1-1G > C substitution in the beta-globin gene and a non-detectable level of mutant mRNA in the patient's reticulocytes. The purpose of this study was to determine whether the transcription and RNA splicing and processing of the mutant gene occurred. We analysed the expression of the mRNA encoded by the cloned mutant gene in COS-1 cells by...

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PMID: 17961316
DOI: 10.1258/000456307782268246

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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