The molecular biology of cystic fibrosis.
Cystic fibrosis afflicts many children and, as the life expectancy for patients with this disease steadily increases, many adults as well. The identification and characterization of the gene responsible for this disorder provide a basis for understanding the pathophysiology of cystic fibrosis. Basic science advances are rapidly being integrated into the diagnostic and therapeutic regimens used by physicians in the care of patients with this disease.
Sferra
T J
TJ
Department of Human Genetics, University of Michigan, Ann Arbor 48109.
Collins
F S
FS
D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics
C505032:CFTR protein, human; D007473:Ion Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator