Article
Position effect in human genetic disease.
Human molecular genetics - 1 Jan 1998
Kleinjan D J, van Heyningen V
Abstract excerpt
The spatially, temporally and quantitatively correct expression of a gene requires the presence not only of intact coding sequence, free of adverse nucleotide changes, but also correctly functioning regulatory control. With the identification of an increasing number of disease-related genes, the...
Topics
- Animals
- Chromosome Mapping
- Female
- Gene Expression Regulation
- Gene Rearrangement
- Genes, Regulator
- Genetic Diseases, Inborn
- Humans
- Male
- Mice
- Models, Genetic
- Mutation
- Promoter Regions, Genetic
- Transcription, Genetic