Article
Diagnosis of human heritable diseases--laboratory approaches and outcomes.
Clinical chemistry - 1 May 1995
Dowton S B, Slaugh R A
Abstract excerpt
Detection of mutant human genes is rapidly becoming an integral part of clinical practice. Human disease may arise by genetic deletion, insertion, fusion, point mutation, or amplification of unstable sequences. Such changes in structure may occur in germ cells or somatically. Rapid advances in understanding the complex nuclear and mitochondrial genomes necessitates deployment of a variety of methods to identify...
Topics
- Base Sequence
- Chemistry, Clinical
- DNA, Mitochondrial
- Genetic Diseases, Inborn
- Genetic Techniques
- Humans
- Laboratories
- Molecular Sequence Data
- Mutation