Article
Gene copy number variation and common human disease.
Clinical genetics - 1 Mar 2010
Fanciulli M, Petretto E, Aitman T J
Abstract excerpt
Variation in gene copy number is increasingly recognized as a common, heritable source of inter-individual differences in genomic sequence. The role of copy number variation is well established in the pathogenesis of rare genomic disorders. More recently, germline and somatic copy number variation have been shown to be important pathogenic factors in a range of common diseases, including infectious, autoimmune...
Topics
- Animals
- Disease
- Gene Dosage
- Genetic Predisposition to Disease
- Humans
- Molecular Biology
