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Article

beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.

European journal of human genetics : EJHG - 1 Jul 2004

van Moorsel Coline H M, van Wijngaarden Erwin E, Fokkema Ivo F A C, den Dunnen Johan T, Roos Dirk, van Zwieten Rob, Giordano Piero C, Harteveld Cornelis L

Abstract excerpt

To test the feasibility of developing a diagnostic microarray for a specific disease, we selected all pathogenic changes of the beta-globin gene occurring at a frequency >/=1% in the multi-ethnic Dutch population for analysis. A tagged single-base extension (SBE) approach was used to detect 19 di...

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PMID: 15069457
DOI: 10.1038/sj.ejhg.5201192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15069457-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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