Article
Molecular studies of human genetic disease.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 1991
Rossiter B J, Caskey C T
Abstract excerpt
A wide variety of techniques are available for detecting disease-causing mutations within human genes; this report provides a brief review of such procedures. Good communication and exchange of materials between the clinical genetics field and the Human Genome Initiative will benefit both.
Topics
- Alleles
- Base Sequence
- Chromosome Mapping
- DNA Ligases
- DNA Restriction Enzymes
- Genetic Diseases, Inborn
- Genetic Linkage
- Human Genome Project
- Humans
- Mutation
- Polymerase Chain Reaction