Article
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
Human mutation - 1 Jan 1992
Tsui L C
Abstract excerpt
Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported be...
Topics
- Amino Acid Sequence
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Genetic Variation
- Humans
- Membrane Proteins
- Mutation
- Polymorphism, Genetic