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Article

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.

BMC genomics - 10 Jan 2007

Ballana Ester, González Juan Ramón, Bosch Nina, Estivill Xavier

Abstract excerpt

BACKGROUND: Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The alpha-defensin cluster on human chromosome 8p23.1 is one of the better-characterized CNVs, in which high copy number variability affecting the DEFA1 and DEFA3 genes has been reported. Moreover, the DEFA3 gene has been found to be absent in...

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Identifiers

PMID: 17214878
DOI: 10.1186/1471-2164-8-14
PMCID: PMC1779775

Genes

DEFA3
DEFA1

Provenance

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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