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Article

8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations.

BMC genomics - 24 Jan 2014

Zhang Xianghong, Müller Sebastian, Möller Michael, Huse Klaus, Taudien Stefan, Book Malte, Stuber Frank, Platzer Matthias, Groth Marco

Abstract excerpt

BACKGROUND: The copy number variation (CNV) in beta-defensin genes (DEFB) on human chromosome 8p23 has been proposed to contribute to the phenotypic differences in inflammatory diseases. However, determination of exact DEFB CN is a major challenge in association studies. Quantitative real-time PCR (qPCR), paralog ratio tests (PRT) and multiplex ligation-dependent probe amplification (MLPA) have been extensively...

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Identifiers

PMID: 24460793
DOI: 10.1186/1471-2164-15-64
PMCID: PMC3937106

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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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