Article
[DNA diagnosis of inherited metabolic diseases].
Rinsho byori. The Japanese journal of clinical pathology - 1 Oct 1991
Narisawa K
Abstract excerpt
In recent years, dramatic advances in the applications of molecular genetic techniques have made it possible to identify molecular defects in man that account for inherited metabolic diseases. Thus molecular genetic techniques has rapidly expanded our ability to diagnose disease. DNA diagnosis includes prenatal and presymptomatic diagnosis as well as identification of carriers of many inherited metabolic...
Topics
- DNA
- DNA Mutational Analysis
- Humans
- Metabolism, Inborn Errors
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length