The spectrum of cystic fibrosis mutations.

Abstract excerpt

Although the major mutation causing cystic fibrosis accounts for almost 70% of mutant chromosomes screened, almost 300 sequence alterations have been identified in the gene during the past two and a half years. At least 230 of these mutations are probably associated with disease. This rapid accumulation of data is in part due to the highly coordinated effort by members of the Cystic Fibrosis Genetic Analysis...

Topics

• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Frameshift Mutation
• Gene Frequency
• Humans
• Ion Channels
• Membrane Proteins
• Mutation
• Point Mutation
• RNA Splicing
• Sequence Deletion