囊腫性纖維化
Cystic fibrosis is an inherited autosomal recessive genetic disorder that occurs through a mutation in a single gene that codes for the cystic fibrosis transmembrane conductance regulator. Research has identified over 2,000 cystic fibrosis associated mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator at varying degrees of frequency within the disease carrying population. These mutations also produce varying degrees of disease phenotypes, and may also work in combinations to produce additive phenotypic effects.