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Article

Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs.

Journal of immunological methods - 15 May 2009

Nuytten Hilde, Wlodarska Iwona, Nackaerts Kristiaan, Vermeire Séverine, Vermeesch Joris, Cassiman Jean-Jacques, Cuppens Harry

Abstract excerpt

The human genome is rich in genomic regions that are repeated several times. These regions are known as CNVs (copy number variations) and can be polymorphic. Moreover, the number of copies may play a role in the predisposition to particular diseases. It is therefore important to accurately determine the copy number of those CNVs in individuals. We have developed a strategy, using concatemeric constructs...

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PMID: 19298822
DOI: 10.1016/j.jim.2009.03.002

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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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