Article
The functional importance of disease-associated mutation.
BMC bioinformatics - 9 Sept 2002
Mooney Sean D, Klein Teri E
Abstract excerpt
BACKGROUND: For many years, scientists believed that point mutations in genes are the genetic switches for somatic and inherited diseases such as cystic fibrosis, phenylketonuria and cancer. Some of these mutations likely alter a protein's function in a manner that is deleterious, and they should occur in functionally important regions of the protein products of genes. Here we show that disease-associated...
Topics
- Computational Biology
- Conserved Sequence
- Genetic Diseases, Inborn
- Humans
- Mutation
- Sequence Alignment
- Sequence Homology, Nucleic Acid