Both copy number and sequence variations affect expression of human DEFB4
Abstract
Copy number variations (CNVs) were found to contribute massively to the variability of genomes. One of the best studied CNV region is the beta-defensin cluster (DEFB) on 8p23.1. Individual DEFFB copy numbers (CNs) between 2 and 12 were found, whereas low CNs predispose for Crohn's disease. A further …
Keywords
National Center for Biotechnology Information
NCBI
NLM
MEDLINE
humans
pubmed abstract
nih
national institutes of health
national library of medicine
research support
non-u.s. gov't
Comparative Study
Cells
Cultured
Base Sequence
Molecular Sequence Data
Gene Expression Regulation*
Promoter Regions
genetic variation / genetics
genetic / genetics
haplotypes / genetics
pmid:20445567
doi:10.1038/gene.2010.19
m groth
c wiegand
m platzer
dna copy number variations / genetics*
beta-defensins / biosynthesis*
beta-defensins / genetics*
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274526
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