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Title: Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.
Authors: Hollox, Edward J.
Davies, J.
Griesenbach, U.
Burgess, J.
Alton, E. W.
Armour, J. A.
First Published: 7-Dec-2005
Publisher: BioMed Central
Citation: Journal of Negative Results in BioMedicine, 2005, 4, pp. 9-9
Abstract: Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with CF. No significant association was found.
DOI Link: 10.1186/1477-5751-4-9
eISSN: 1477-5751
Type: Journal Article
Rights: © 2005 Hollox et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Appears in Collections:Published Articles, Dept. of Genetics

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