Both copy number and sequence variations affect expression of human DEFB4

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2010
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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 ā€¦
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Authors Groth M;Wiegand C;Szafranski K;Huse K;Kramer M;Rosenstiel P;Schreiber S;Norgauer J;Platzer M;;
Journal genes and immunity
Year 2010
DOI DOI not found
URL
http://www.ncbi.nlm.nih.gov/pubmed/20445567
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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