The spectrum of cystic fibrosis mutations.
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 Consortium. The information is not only essential to genetic diagnosis, but also will aid in understanding the structure and function of the protein, and possibly in correlating genotype with phenotype.
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D016368:Frameshift Mutation; D005787:Gene Frequency; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics* / Q000648:ultrastructure; D009154:Mutation; D017354:Point Mutation; D012326:RNA Splicing; D017384:Sequence Deletion
C505032:CFTR protein, human; D007473:Ion Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator