Article
Diagnosis at the bedside by gene analysis.
Southern medical journal - 1 Aug 1990
Phillips J A
Abstract excerpt
Four different ideas are important in understanding the diagnostic applications of DNA analysis. When DNA changes in a gene are detected, one must determine whether they represent DNA polymorphisms (changes not associated with disease) or mutations that affect expression of the gene. Differences seen in mutations in different patients (heterogeneity) often explain clinical variation at a molecular level. Current...
Topics
- Alleles
- Chromosome Deletion
- Chromosome Mapping
- DNA
- Female
- Gene Expression
- Genetic Diseases, Inborn
- Genetic Linkage
- Hemophilia A
- Humans
- Male
- Methods
- Mutation