Article
Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.
Journal of negative results in biomedicine - 7 Dec 2005
Hollox Edward J, Davies Jane, Griesenbach Uta, Burgess Juliana, Alton Eric W F W, Armour John A L
Abstract excerpt
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...
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