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Title: Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.
Authors: Hollox, EJ
Davies, J
Griesenbach, U
Burgess, J
Alton, EW
Armour, JA
First Published: 2005
Citation: J NEGAT RESULTS BIOMED, 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
Appears in Collections:Published Articles, Dept. of Genetics

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