Article
The cystic fibrosis gene: a molecular genetic perspective.
Cold Spring Harbor perspectives in medicine - 1 Feb 2013
Tsui Lap-Chee, Dorfman Ruslan
Abstract excerpt
The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first step in understanding the basic defect and pathophysiology of the disease. This study aims to provide a historical account of key developments as well as factors that contributed to the cystic fibrosis transmembrane conductance regulator (CFTR) gene identification work. A redefined gene structure based on the full...
Topics
- Alternative Splicing
- Animals
- Cloning, Molecular
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Databases, Genetic
- Disease Models, Animal
- Exons
- Humans
- Mice
- Mutation