Article
Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus.
Cytogenetic and genome research - 1 Jan 2008
Wu Y L, Yang Y, Chung E K, Zhou B, Kitzmiller K J, Savelli S L, Nagaraja H N, Birmingham D J, Tsao B P, Rovin B H, Hebert L A, Yu C Y
Abstract excerpt
A new paradigm in human genetics is high frequencies of inter-individual variations in copy numbers of specific genomic DNA segments. Such common copy number variation (CNV) loci often contain genes engaged in host-environment interaction including those involved in immune effector functions. DNA sequences within a CNV locus often share a high degree of identity but beneficial or deleterious polymorphic variants...
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