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©2013 UpToDate ® Print Email Defects in the CFTR gene in cystic fibrosis Schematic representation of the biosynthesis and function of CFTR in an epithelial cell and of mechanisms of dysfunction associated with different cystic fibrosis mutations. CFTR: cystic fibrosis transmembrane conductance regulator; ER: endoplasmic reticulum; PKA: phosphokinase A; NB01 and NB02: nuclear binding folds. Adapted from Welsh, MJ, Tsui, L-C, Boat, T, Beaudet, AL. Cystic fibrosis. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver, CR, Beaudet, AL, Sly, WS, et al (Eds), McGraw-Hill, New York, 1995, p. 3801.