Je. Mickle et Gr. Cutting, CLINICAL IMPLICATIONS OF CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATIONS, Clinics in chest medicine, 19(3), 1998, pp. 443
Cystic fibrosis (CF) phenotypes are determined by mutations in the CF
gene, genetic background, and environment. The nature of the cystic fi
brosis transmembrane conductance regulator (CFTR) mutation determines
the extent of protein function. CFTR mutations that abolish protein fu
nction are associated with severe CF phenotypes. Mutants that retain p
artial function of CFTR are associated with mild phenotypes. The effec
t of CFTR dysfunction is variable in different tissues. Atypical pheno
types caused by mutations in the CF gene may be revealed by CFTR mutat
ion analysis and family studies. These phenotypes help to define the s
pectrum of clinical manifestations caused by CFTR mutations.