Article
The molecular basis of genetic disease.
Current opinion in biotechnology - 1 Dec 1990
Boehm C D, Kazazian H H
Abstract excerpt
The pace of localization and characterization of genes affected in human genetic disorders is quickening. Many important genes were localized or characterized recently: genes for in cystic fibrosis, NF-2, Marfan's syndrome and xeroderma pigmentosum, to name a few. Also, in the past 15 months, the CFTR gene affected in cystic fibrosis has been isolated, the first disease gene to be isolated without use of previous...
Topics
- Genetic Diseases, Inborn
- Genetic Linkage
- Humans
- Mutation