Article
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.
Human molecular genetics - 1 Aug 1993
Yang Y, Devor D C, Engelhardt J F, Ernst S A, Strong T V, Collins F S, Cohn J A, Frizzell R A, Wilson J M
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the gene encoding a chloride channel called the CF transmembrane conductance regulator (CFTR). A single mutation in this gene, deletion of three nucleotides that leads to the absence of phenylalanine 508 (i.e., delta F508), is found on 70% of all CF chromosomes. To explore the molecular mechanism(s) responsible for defective chloride transport in patients with CF, we...
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