Article
Partial gene duplication as a cause of human disease.
Human mutation - 1 Jan 1992
Hu X, Worton R G
Abstract excerpt
Tandem duplication of large regions of DNA, including duplication of whole genes, provides a substrate for genetic evolution. Tandem duplication of smaller regions involving parts of genes is now recognized as a contributor to the mutation spectrum that results in genetic disease. In this review, more than 30 unrelated partial gene duplications that have been implicated in the genesis of human genetic disease are...
Topics
- Biological Evolution
- DNA
- Genetic Diseases, Inborn
- Genetics, Medical
- Humans
- Models, Genetic
- Multigene Family
- Mutation