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Article

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.

Human mutation - 1 Oct 2008

Groth Marco, Szafranski Karol, Taudien Stefan, Huse Klaus, Mueller Oliver, Rosenstiel Philip, Nygren Anders O H, Schreiber Stefan, Birkenmeier Gerd, Platzer Matthias

Abstract excerpt

One unexpected feature of the human genome is the high structural variability across individuals. Frequently, large regions of the genome show structural polymorphisms and many vary in their abundance. However, accurate methods for the characterization and typing of such copy number variations (CNV) are needed. The defensin cluster at the human region 8p23.1 is one of the best studied CNV regions due to its...

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PMID: 18470942
DOI: 10.1002/humu.20751

Genes

DEFA3

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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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