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Article

High-throughput mutational screening for beta-thalassemia by single-nucleotide extension.

Electrophoresis - 1 Dec 2007

Galbiati Silvia, Chiari Marcella, Macellari Micol, Ferrari Maurizio, Cremonesi Laura, Cretich Marina

Abstract excerpt

In this work a high-throughput method based on the single-nucleotide extension (SNE) reaction and multicolour detection in a DNA sequencer was developed to screen for eight mutations in the human beta-globin gene: IVSI.110, cd39, IVSI.1, IVSI.6, IVSII.745, HbC, HbS and cd6. The method has been va...

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PMID: 18040987
DOI: 10.1002/elps.200700181

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18040987-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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