[PDF][PDF] Gene targeting of CFTR DNA in CF epithelial cells
K Kunzelmann, JY Legendre, DL Knoell, LC Escobar… - Gene …, 1996 - academia.edu
Introduction Isolation and characterization of the CFTR gene" has been crucial for
understanding the biochemical mechanism (s) underlying CF pathology. A 3-bp, in-frame
deletion eliminating a phenylalanine at codon 508 (AF508) of CFTR protein is the most
common CF mutation and has been found in about 70% of all North American CF
chromosomes.** This and other CFTR gene mutations result in the cAMP-dependent Clion
transport defect which gives rise to the CF phenotype. Correction of defective Cl ion …
understanding the biochemical mechanism (s) underlying CF pathology. A 3-bp, in-frame
deletion eliminating a phenylalanine at codon 508 (AF508) of CFTR protein is the most
common CF mutation and has been found in about 70% of all North American CF
chromosomes.** This and other CFTR gene mutations result in the cAMP-dependent Clion
transport defect which gives rise to the CF phenotype. Correction of defective Cl ion …